********************************************************************* * LD Score Regression (LDSC) * Version 1.0.1 * (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane * Broad Institute of MIT and Harvard / MIT Department of Mathematics * GNU General Public License v3 ********************************************************************* Call: ./ldsc.py \ --h2 /projects/pfenninggroup/machineLearningForComputationalBiology/gwasEnrichments/gwas/munged/CAD-Howson_2017.sumstats.gz \ --ref-ld-chr /projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.Astro.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D1.D2H.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D1.Matrix.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D1.Striosome.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D2.Matrix.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D2.Striosome.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.INT.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.Microglia.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.Oligo.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.OPC.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/gwasEnrichments/1000G_ALL_Phase3_hg38_files/baseline_v1.1/baseline_v1.1.EUR. \ --out /projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/conditional/Human_Striatum_snATAC.conditional.CAD-Howson_2017.EUR \ --w-ld-chr /projects/pfenninggroup/machineLearningForComputationalBiology/gwasEnrichments/1000G_ALL_Phase3_hg38_files/weights/1000G.EUR.weights.hm3_noMHC. \ --print-coefficients Beginning analysis at Sat Jun 22 17:10:46 2024 Reading summary statistics from /projects/pfenninggroup/machineLearningForComputationalBiology/gwasEnrichments/gwas/munged/CAD-Howson_2017.sumstats.gz ... Read summary statistics for 935250 SNPs. Reading reference panel LD Score from /projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.Astro.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D1.D2H.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D1.Matrix.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D1.Striosome.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D2.Matrix.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.D2.Striosome.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.INT.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.Microglia.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.Oligo.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/StriatumComparativeGenomics/data/tidy_data/human_Str_ldsc/annotations/Human_Striatum_snATAC.OPC.hg38.EUR.,/projects/pfenninggroup/machineLearningForComputationalBiology/gwasEnrichments/1000G_ALL_Phase3_hg38_files/baseline_v1.1/baseline_v1.1.EUR.[1-22] ... (ldscore_fromlist) Read reference panel LD Scores for 1198864 SNPs. Removing partitioned LD Scores with zero variance. Reading regression weight LD Score from /projects/pfenninggroup/machineLearningForComputationalBiology/gwasEnrichments/1000G_ALL_Phase3_hg38_files/weights/1000G.EUR.weights.hm3_noMHC.[1-22] ... (ldscore_fromlist) Read regression weight LD Scores for 1198864 SNPs. After merging with reference panel LD, 926827 SNPs remain. After merging with regression SNP LD, 926827 SNPs remain. Removed 17 SNPs with chi^2 > 84.267834 (926810 SNPs remain) Total Observed scale h2: 0.0872 (0.0101) Categories: Human_Striatum_snATAC.Astro.hg38_0 Human_Striatum_snATAC.D1.D2H.hg38_1 Human_Striatum_snATAC.D1.Matrix.hg38_2 Human_Striatum_snATAC.D1.Striosome.hg38_3 Human_Striatum_snATAC.D2.Matrix.hg38_4 Human_Striatum_snATAC.D2.Striosome.hg38_5 Human_Striatum_snATAC.INT.hg38_6 Human_Striatum_snATAC.Microglia.hg38_7 Human_Striatum_snATAC.Oligo.hg38_8 Human_Striatum_snATAC.OPC.hg38_9 Coding_UCSCL2_10 Coding_UCSC.extend.500L2_10 Conserved_LindbladTohL2_10 Conserved_LindbladToh.extend.500L2_10 CTCF_HoffmanL2_10 CTCF_Hoffman.extend.500L2_10 DGF_ENCODEL2_10 DGF_ENCODE.extend.500L2_10 DHS_peaks_TrynkaL2_10 DHS_TrynkaL2_10 DHS_Trynka.extend.500L2_10 Enhancer_AnderssonL2_10 Enhancer_Andersson.extend.500L2_10 Enhancer_HoffmanL2_10 Enhancer_Hoffman.extend.500L2_10 FetalDHS_TrynkaL2_10 FetalDHS_Trynka.extend.500L2_10 H3K27ac_HniszL2_10 H3K27ac_Hnisz.extend.500L2_10 H3K27ac_PGC2L2_10 H3K27ac_PGC2.extend.500L2_10 H3K4me1_peaks_TrynkaL2_10 H3K4me1_TrynkaL2_10 H3K4me1_Trynka.extend.500L2_10 H3K4me3_peaks_TrynkaL2_10 H3K4me3_TrynkaL2_10 H3K4me3_Trynka.extend.500L2_10 H3K9ac_peaks_TrynkaL2_10 H3K9ac_TrynkaL2_10 H3K9ac_Trynka.extend.500L2_10 Intron_UCSCL2_10 Intron_UCSC.extend.500L2_10 PromoterFlanking_HoffmanL2_10 PromoterFlanking_Hoffman.extend.500L2_10 Promoter_UCSCL2_10 Promoter_UCSC.extend.500L2_10 Repressed_HoffmanL2_10 Repressed_Hoffman.extend.500L2_10 SuperEnhancer_HniszL2_10 SuperEnhancer_Hnisz.extend.500L2_10 TFBS_ENCODEL2_10 TFBS_ENCODE.extend.500L2_10 Transcr_HoffmanL2_10 Transcr_Hoffman.extend.500L2_10 TSS_HoffmanL2_10 TSS_Hoffman.extend.500L2_10 UTR_3_UCSCL2_10 UTR_3_UCSC.extend.500L2_10 UTR_5_UCSCL2_10 UTR_5_UCSC.extend.500L2_10 WeakEnhancer_HoffmanL2_10 WeakEnhancer_Hoffman.extend.500L2_10 Observed scale h2: -0.0033 -0.0067 0.0192 -0.0188 -0.0033 0.0139 -0.0008 0.0018 -0.0027 -0.0038 0.0013 0.0169 0.0026 -0.0048 0.0013 -0.0088 0.035 -0.0279 -0.0113 0.0159 0.0074 0.0003 -0.0046 0.0103 -0.0085 -0.0032 0.02 -0.0052 -0.0077 0.0055 -0.0005 -0.0119 -0.003 0.0287 0.0003 -0.0344 0.0723 0.0047 0.0248 0.012 0.0626 -0.0773 -0.0007 0.0046 -0.0186 0.0117 0.0216 -0.0042 0.0829 -0.0825 0.007 -0.0248 0.0145 -0.0366 0.0057 -0.0051 -0.0073 0.0076 0.002 -0.0095 0.0048 0.0059 Observed scale h2 SE: 0.0044 0.0044 0.0087 0.0077 0.0091 0.0095 0.0042 0.0039 0.0038 0.0049 0.0067 0.0095 0.0065 0.0211 0.0059 0.0089 0.0181 0.0377 0.0214 0.0306 0.045 0.0025 0.0046 0.011 0.0156 0.0164 0.0249 0.0676 0.071 0.0372 0.0405 0.0178 0.042 0.0528 0.0083 0.0189 0.0237 0.0089 0.0207 0.0245 0.0558 0.0578 0.0032 0.0058 0.0168 0.0175 0.0276 0.032 0.1152 0.1164 0.0168 0.025 0.0236 0.0425 0.0067 0.0083 0.0056 0.0074 0.0027 0.0055 0.0063 0.0117 Proportion of SNPs: 0.0025 0.0018 0.0036 0.0029 0.0035 0.0034 0.0021 0.0019 0.0019 0.0024 0.0027 0.0085 0.0042 0.0368 0.0022 0.0063 0.0152 0.0508 0.0137 0.0203 0.0493 0.0005 0.0018 0.0044 0.0086 0.0106 0.0297 0.0369 0.0394 0.0264 0.0319 0.0188 0.044 0.0575 0.0043 0.0134 0.0235 0.0042 0.0133 0.0224 0.035 0.0365 0.0008 0.003 0.0047 0.0056 0.0351 0.0561 0.016 0.0163 0.0138 0.0326 0.0294 0.0625 0.0017 0.0031 0.0018 0.0035 0.0007 0.0031 0.0023 0.0087 Proportion of h2g: -0.038 -0.0773 0.2198 -0.2153 -0.0383 0.1595 -0.0096 0.0212 -0.0307 -0.0439 0.0145 0.194 0.0304 -0.0552 0.0144 -0.1008 0.4013 -0.3205 -0.1293 0.1827 0.0844 0.0039 -0.053 0.1185 -0.0979 -0.0371 0.2291 -0.0597 -0.0889 0.0627 -0.0057 -0.1371 -0.0339 0.3292 0.004 -0.3941 0.8292 0.0534 0.2844 0.1377 0.7185 -0.8872 -0.0076 0.0532 -0.2131 0.1342 0.2472 -0.0478 0.9511 -0.946 0.0803 -0.2846 0.1668 -0.4198 0.0655 -0.0585 -0.0842 0.087 0.0235 -0.1095 0.0553 0.0678 Enrichment: -15.3374 -42.7796 61.4993 -74.3854 -10.9528 46.3835 -4.6199 10.8645 -16.1015 -18.0925 5.3928 22.7084 7.316 -1.5011 6.4637 -15.9501 26.476 -6.3037 -9.4541 9.0144 1.7131 8.6239 -28.7241 26.7873 -11.3919 -3.5132 7.725 -1.6163 -2.256 2.3766 -0.1796 -7.2934 -0.77 5.7251 0.9255 -29.3893 35.2782 12.8245 21.4009 6.1527 20.5174 -24.2775 -9.151 17.6651 -45.8147 24.0486 7.0413 -0.8508 59.3821 -58.1877 5.8175 -8.7426 5.6682 -6.7128 38.5295 -18.6613 -46.9561 24.6278 31.4674 -35.273 23.5823 7.8215 Coefficients: -1.0244e-07 -2.8574e-07 4.1078e-07 -4.9685e-07 -7.3158e-08 3.0981e-07 -3.0858e-08 7.2568e-08 -1.0755e-07 -1.2085e-07 3.6021e-08 1.5168e-07 4.8867e-08 -1.0027e-08 4.3174e-08 -1.0654e-07 1.7684e-07 -4.2105e-08 -6.3148e-08 6.0211e-08 1.1443e-08 5.7602e-08 -1.9186e-07 1.7892e-07 -7.6091e-08 -2.3466e-08 5.1598e-08 -1.0796e-08 -1.5069e-08 1.5874e-08 -1.1996e-09 -4.8716e-08 -5.1428e-09 3.8240e-08 6.1816e-09 -1.9630e-07 2.3564e-07 8.5660e-08 1.4294e-07 4.1096e-08 1.3704e-07 -1.6216e-07 -6.1123e-08 1.1799e-07 -3.0601e-07 1.6063e-07 4.7032e-08 -5.6827e-09 3.9664e-07 -3.8866e-07 3.8857e-08 -5.8395e-08 3.7860e-08 -4.4837e-08 2.5735e-07 -1.2465e-07 -3.1364e-07 1.6450e-07 2.1018e-07 -2.3560e-07 1.5751e-07 5.2243e-08 Coefficient SE: 1.3574e-07 1.8547e-07 1.8716e-07 2.0391e-07 1.9931e-07 2.1139e-07 1.5735e-07 1.5231e-07 1.5136e-07 1.5557e-07 1.9242e-07 8.4785e-08 1.1934e-07 4.3922e-08 2.0080e-07 1.0762e-07 9.1609e-08 5.6782e-08 1.1988e-07 1.1562e-07 7.0032e-08 4.2237e-07 1.8968e-07 1.9127e-07 1.3904e-07 1.1908e-07 6.4318e-08 1.4034e-07 1.3803e-07 1.0790e-07 9.7281e-08 7.2404e-08 7.2996e-08 7.0375e-08 1.4737e-07 1.0817e-07 7.7271e-08 1.6345e-07 1.1945e-07 8.3926e-08 1.2210e-07 1.2119e-07 2.9981e-07 1.4735e-07 2.7703e-07 2.4066e-07 6.0218e-08 4.3664e-08 5.5112e-07 5.4848e-07 9.3067e-08 5.8904e-08 6.1342e-08 5.2067e-08 3.0248e-07 2.0244e-07 2.4004e-07 1.6154e-07 2.8095e-07 1.3578e-07 2.0667e-07 1.0336e-07 Lambda GC: 1.105 Mean Chi^2: 1.143 Intercept: 1.0141 (0.0096) Ratio: 0.0988 (0.0672) Analysis finished at Sat Jun 22 17:19:13 2024 Total time elapsed: 8.0m:26.83s