chrom stringclasses 12
values | pos int64 36.1k 249M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | subset stringclasses 8
values | match_group int64 0 2.16k | rsid stringlengths 3 15 | pip float64 0 1 | traits stringclasses 279
values | MAF float64 0 0.5 | ld_score float64 1.01 3.79k | consequence stringclasses 13
values | consequence_cre stringclasses 29
values | exon_closest_pc_gene_id stringlengths 15 15 | distance_exon_pc int64 0 1.68M | exon_closest_nc_gene_id stringlengths 15 15 | distance_exon_nc int64 0 507k | distance_exon int64 0 507k | exon_closest_gene_id stringlengths 15 15 | consequence_final stringclasses 28
values | tss_closest_pc_gene_id stringlengths 15 15 | distance_tss_pc int64 0 1.69M | tss_closest_nc_gene_id stringlengths 15 15 | distance_tss_nc int64 0 531k | distance_tss int64 0 531k | tss_closest_gene_id stringlengths 15 15 | consequence_group stringclasses 8
values | distance_tss_pc_bin stringclasses 4
values | distance_exon_pc_bin stringclasses 7
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17 | 4,618,239 | A | G | false | distal | 840 | rs142225653 | 0.000065 | 0.011359 | 13.405 | downstream_gene_variant | pELS | ENSG00000188176 | 9,919 | ENSG00000261863 | 588 | 588 | ENSG00000261863 | pELS | ENSG00000161905 | 21,642 | ENSG00000222429 | 1,612 | 1,612 | ENSG00000222429 | distal | NA | NA | |
17 | 4,639,054 | T | C | true | missense_variant | 814 | rs113604586 | 0.99998 | Eosino | 0.002943 | 13.365 | missense_variant | missense_variant | ENSG00000161905 | 0 | ENSG00000161905 | 0 | 0 | ENSG00000161905 | missense_variant | ENSG00000161905 | 827 | ENSG00000161905 | 109 | 109 | ENSG00000161905 | missense_variant | NA | NA |
17 | 4,642,078 | C | T | false | tss_proximal | 899 | rs34104097 | 0.000068 | 0.008905 | 56.995 | intron_variant | PLS | ENSG00000161905 | 142 | ENSG00000161905 | 399 | 142 | ENSG00000161905 | tss_proximal | ENSG00000161905 | 142 | ENSG00000161905 | 399 | 142 | ENSG00000161905 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 4,675,274 | G | A | false | missense_variant | 822 | rs562119958 | 0.000188 | 0.000439 | 5.1518 | missense_variant | missense_variant | ENSG00000141456 | 0 | ENSG00000141456 | 0 | 0 | ENSG00000141456 | missense_variant | ENSG00000141456 | 16,550 | ENSG00000235085 | 104 | 104 | ENSG00000235085 | missense_variant | NA | NA | |
17 | 4,675,660 | G | A | false | non_coding_transcript_exon_variant | 864 | rs150835562 | 0.000125 | 0.005212 | 8.0831 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000141456 | 136 | ENSG00000141456 | 0 | 0 | ENSG00000141456 | non_coding_transcript_exon_variant | ENSG00000141456 | 16,164 | ENSG00000141456 | 141 | 141 | ENSG00000141456 | non_coding_transcript_exon_variant | NA | NA | |
17 | 4,720,565 | C | T | false | missense_variant | 812 | rs34923832 | 0.000054 | 0.004283 | 12.263 | missense_variant | missense_variant | ENSG00000141480 | 0 | ENSG00000141480 | 157 | 0 | ENSG00000141480 | missense_variant | ENSG00000141480 | 4,975 | ENSG00000141480 | 3,128 | 3,128 | ENSG00000141480 | missense_variant | NA | NA | |
17 | 4,739,441 | G | A | false | 5_prime_UTR_variant | 887 | rs140340376 | 0.000104 | 0.007811 | 14.536 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000161921 | 0 | ENSG00000141497 | 588 | 0 | ENSG00000161921 | 5_prime_UTR_variant | ENSG00000161921 | 295 | ENSG00000141497 | 588 | 295 | ENSG00000161921 | 5_prime_UTR_variant | NA | NA | |
17 | 4,786,277 | T | C | false | missense_variant | 824 | rs4790706 | 0.000398 | 0.4682 | 54.642 | missense_variant | missense_variant | ENSG00000182853 | 0 | ENSG00000280254 | 779 | 0 | ENSG00000182853 | missense_variant | ENSG00000182853 | 86 | ENSG00000280254 | 779 | 86 | ENSG00000182853 | missense_variant | NA | NA | |
17 | 4,789,345 | G | T | true | tss_proximal | 866 | rs79202680 | 0.996115 | LDLC,TC,TG | 0.004872 | 47.941 | intron_variant | pELS | ENSG00000182327 | 54 | ENSG00000280254 | 182 | 54 | ENSG00000182327 | tss_proximal | ENSG00000182327 | 380 | ENSG00000280254 | 2,287 | 380 | ENSG00000182327 | tss_proximal | tss_prox:b1 | tss_prox:b0 |
17 | 4,797,698 | C | G | false | missense_variant | 831 | rs2304974 | 0.000172 | 0.011303 | 27.191 | missense_variant | missense_variant | ENSG00000142507 | 0 | ENSG00000142507 | 0 | 0 | ENSG00000142507 | missense_variant | ENSG00000142507 | 1,533 | ENSG00000142507 | 13 | 13 | ENSG00000142507 | missense_variant | NA | NA | |
17 | 4,807,438 | T | C | false | tss_proximal | 898 | rs71368521 | 0.00139 | 0.14614 | 107.1 | intron_variant | pELS | ENSG00000129219 | 123 | ENSG00000129219 | 212 | 123 | ENSG00000129219 | tss_proximal | ENSG00000129219 | 123 | ENSG00000129219 | 245 | 123 | ENSG00000129219 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 4,835,663 | C | T | true | distal | 870 | rs9895848 | 0.99228 | Lym | 0.34574 | 112.46 | intron_variant | dELS | ENSG00000141503 | 2,022 | ENSG00000141503 | 2,022 | 2,022 | ENSG00000141503 | dELS | ENSG00000141503 | 2,061 | ENSG00000141503 | 2,041 | 2,041 | ENSG00000141503 | distal | NA | NA |
17 | 4,894,137 | C | T | false | tss_proximal | 932 | rs112465713 | 0.000175 | 0.001636 | 86.423 | intron_variant | dELS | ENSG00000141503 | 36 | ENSG00000141503 | 36 | 36 | ENSG00000141503 | tss_proximal | ENSG00000141503 | 2,067 | ENSG00000141503 | 406 | 406 | ENSG00000141503 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 4,896,641 | C | G | false | tss_proximal | 866 | rs142924453 | 0.000272 | 0.003473 | 29.14 | intron_variant | dELS | ENSG00000141503 | 32 | ENSG00000141503 | 32 | 32 | ENSG00000141503 | tss_proximal | ENSG00000141503 | 435 | ENSG00000141503 | 1,782 | 435 | ENSG00000141503 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 4,898,299 | C | G | false | 3_prime_UTR_variant | 914 | rs3514 | 0.000515 | 0.14336 | 97.891 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000108556 | 0 | ENSG00000108556 | 0 | 0 | ENSG00000108556 | 3_prime_UTR_variant | ENSG00000205710 | 1,118 | ENSG00000108556 | 1,929 | 1,118 | ENSG00000205710 | 3_prime_UTR_variant | NA | NA | |
17 | 4,900,721 | C | T | false | 3_prime_UTR_variant | 913 | rs55735639 | 0.001289 | 0.013946 | 25.924 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000205710 | 0 | ENSG00000108556 | 71 | 0 | ENSG00000205710 | 3_prime_UTR_variant | ENSG00000205710 | 1,184 | ENSG00000108556 | 491 | 491 | ENSG00000108556 | 3_prime_UTR_variant | NA | NA | |
17 | 4,902,954 | C | T | false | tss_proximal | 869 | rs12602789 | 0.000065 | 0.07489 | 112.02 | intron_variant | pELS | ENSG00000205710 | 19 | ENSG00000108556 | 323 | 19 | ENSG00000205710 | tss_proximal | ENSG00000108556 | 143 | ENSG00000108556 | 323 | 143 | ENSG00000108556 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 4,932,332 | C | T | true | 5_prime_UTR_variant | 885 | rs56337033 | 0.9997 | Plt | 0.003412 | 18.05 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000185245 | 0 | ENSG00000108528 | 4,984 | 0 | ENSG00000185245 | 5_prime_UTR_variant | ENSG00000185245 | 54 | ENSG00000108528 | 6,224 | 54 | ENSG00000185245 | 5_prime_UTR_variant | NA | NA |
17 | 4,933,378 | C | T | false | synonymous_variant | 894 | rs6066 | 0.000255 | 0.041885 | 67.066 | synonymous_variant | synonymous_variant | ENSG00000185245 | 0 | ENSG00000108528 | 3,938 | 0 | ENSG00000185245 | synonymous_variant | ENSG00000108556 | 1,059 | ENSG00000108528 | 5,178 | 1,059 | ENSG00000108556 | synonymous_variant | NA | NA | |
17 | 4,933,900 | C | A | true | synonymous_variant | 894 | rs553749201 | 0.99948 | Plt | 0.052362 | 81.765 | synonymous_variant | synonymous_variant | ENSG00000185245 | 0 | ENSG00000108528 | 3,416 | 0 | ENSG00000185245 | synonymous_variant | ENSG00000108556 | 537 | ENSG00000108528 | 4,656 | 537 | ENSG00000108556 | synonymous_variant | NA | NA |
17 | 4,933,915 | A | G | false | synonymous_variant | 894 | rs2586529 | 0.000516 | 0.05821 | 75.551 | synonymous_variant | synonymous_variant | ENSG00000185245 | 0 | ENSG00000108528 | 3,401 | 0 | ENSG00000185245 | synonymous_variant | ENSG00000108556 | 522 | ENSG00000108528 | 4,641 | 522 | ENSG00000108556 | synonymous_variant | NA | NA | |
17 | 4,967,993 | T | C | false | 3_prime_UTR_variant | 913 | rs117836374 | 0.000356 | 0.013389 | 30.239 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000108509 | 3 | ENSG00000108509 | 0 | 0 | ENSG00000108509 | 3_prime_UTR_variant | ENSG00000091640 | 175 | ENSG00000262429 | 1 | 1 | ENSG00000262429 | 3_prime_UTR_variant | NA | NA | |
17 | 4,988,881 | C | G | false | missense_variant | 817 | rs74744272 | 0.008483 | 0.12496 | 225.8 | missense_variant | missense_variant | ENSG00000196388 | 0 | ENSG00000262227 | 300 | 0 | ENSG00000196388 | missense_variant | ENSG00000108509 | 1,205 | ENSG00000262227 | 1,191 | 1,191 | ENSG00000262227 | missense_variant | NA | NA | |
17 | 4,997,769 | G | A | false | tss_proximal | 897 | rs116890733 | 0.000167 | 0.04131 | 126.03 | upstream_gene_variant | PLS_flank | ENSG00000196388 | 158 | ENSG00000262227 | 9,188 | 158 | ENSG00000196388 | tss_proximal | ENSG00000196388 | 158 | ENSG00000129250 | 9,695 | 158 | ENSG00000196388 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 4,998,558 | C | G | false | tss_proximal | 897 | rs77239225 | 0.000263 | 0.044294 | 87.557 | intron_variant | pELS | ENSG00000129250 | 401 | ENSG00000129250 | 8,906 | 401 | ENSG00000129250 | tss_proximal | ENSG00000129250 | 603 | ENSG00000129250 | 8,906 | 603 | ENSG00000129250 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 4,998,687 | C | T | true | tss_proximal | 897 | rs11658587 | 0.95507 | HbA1c | 0.037047 | 27.009 | intron_variant | pELS | ENSG00000129250 | 325 | ENSG00000129250 | 8,777 | 325 | ENSG00000129250 | tss_proximal | ENSG00000129250 | 732 | ENSG00000129250 | 8,777 | 732 | ENSG00000129250 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 5,033,603 | C | T | false | missense_variant | 837 | rs2304445 | 0.001499 | 0.17063 | 170.63 | missense_variant | missense_variant | ENSG00000132517 | 0 | ENSG00000132517 | 0 | 0 | ENSG00000132517 | missense_variant | ENSG00000132517 | 1,822 | ENSG00000132517 | 1,818 | 1,818 | ENSG00000132517 | missense_variant | NA | NA | |
17 | 5,109,320 | C | T | false | 3_prime_UTR_variant | 913 | rs149824709 | 0.000079 | 0.012974 | 54.039 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167840 | 73 | ENSG00000167840 | 0 | 0 | ENSG00000167840 | 3_prime_UTR_variant | ENSG00000167840 | 2,520 | ENSG00000167840 | 4 | 4 | ENSG00000167840 | 3_prime_UTR_variant | NA | NA | |
17 | 5,112,773 | G | A | false | tss_proximal | 900 | rs148893837 | 0.000058 | 0.043033 | 45.512 | intron_variant | pELS | ENSG00000167840 | 881 | ENSG00000167840 | 421 | 421 | ENSG00000167840 | tss_proximal | ENSG00000167840 | 881 | ENSG00000234327 | 585 | 585 | ENSG00000234327 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 5,200,635 | G | A | false | distal | 860 | rs12449778 | 0.000086 | 0.185 | 206.29 | intron_variant | dELS_flank | ENSG00000161929 | 8,284 | ENSG00000261879 | 8,471 | 8,284 | ENSG00000161929 | dELS_flank | ENSG00000180626 | 8,766 | ENSG00000261879 | 8,530 | 8,530 | ENSG00000261879 | distal | NA | NA | |
17 | 5,200,980 | G | A | false | distal | 860 | rs2585270 | 0.000085 | 0.1852 | 206.33 | intron_variant | dELS_flank | ENSG00000161929 | 7,939 | ENSG00000261879 | 8,769 | 7,939 | ENSG00000161929 | dELS_flank | ENSG00000180626 | 9,111 | ENSG00000261879 | 8,875 | 8,875 | ENSG00000261879 | distal | NA | NA | |
17 | 5,486,982 | G | A | false | 5_prime_UTR_variant | 890 | rs144102744 | 0.001624 | 0.020359 | 35.775 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000167842 | 0 | ENSG00000167842 | 18 | 0 | ENSG00000167842 | 5_prime_UTR_variant | ENSG00000167842 | 54 | ENSG00000072849 | 170 | 54 | ENSG00000167842 | 5_prime_UTR_variant | NA | NA | |
17 | 5,500,950 | C | T | false | missense_variant | 817 | rs55910638 | 0.00011 | 0.12201 | 129.44 | missense_variant | missense_variant | ENSG00000286190 | 0 | ENSG00000091592 | 0 | 0 | ENSG00000286190 | missense_variant | ENSG00000286190 | 55 | ENSG00000091592 | 2,012 | 55 | ENSG00000286190 | missense_variant | NA | NA | |
17 | 5,565,330 | T | C | false | distal | 861 | rs12602431 | 0.000047 | 0.14439 | 111.95 | intron_variant | dELS_flank | ENSG00000091592 | 5,286 | ENSG00000091592 | 623 | 623 | ENSG00000091592 | dELS_flank | ENSG00000091592 | 18,626 | ENSG00000091592 | 6,148 | 6,148 | ENSG00000091592 | distal | NA | NA | |
17 | 5,788,680 | A | C | false | distal | 880 | rs182171378 | 0.000085 | 0.001556 | 3.9223 | intron_variant | dELS | ENSG00000285471 | 15,652 | ENSG00000284837 | 15,652 | 15,652 | ENSG00000285471 | dELS | ENSG00000285471 | 15,753 | ENSG00000284837 | 16,445 | 15,753 | ENSG00000285471 | distal | NA | NA | |
17 | 6,081,989 | G | T | false | tss_proximal | 868 | rs75740064 | 0.000086 | 0.025745 | 7.5105 | intron_variant | dELS_flank | ENSG00000179314 | 18 | ENSG00000179314 | 903 | 18 | ENSG00000179314 | tss_proximal | ENSG00000179314 | 106 | ENSG00000179314 | 1,244 | 106 | ENSG00000179314 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 6,433,951 | G | A | false | missense_variant | 829 | rs144822294 | 0.000279 | 0.001762 | 15.827 | missense_variant | missense_variant | ENSG00000129221 | 0 | ENSG00000129221 | 0 | 0 | ENSG00000129221 | missense_variant | ENSG00000129221 | 1,127 | ENSG00000129221 | 1,180 | 1,127 | ENSG00000129221 | missense_variant | NA | NA | |
17 | 6,442,242 | T | C | false | distal | 905 | rs80188917 | 0.000087 | 0.007079 | 40.22 | intergenic_variant | intergenic_variant | ENSG00000129195 | 2,198 | ENSG00000129195 | 2,199 | 2,198 | ENSG00000129195 | intergenic_variant | ENSG00000129195 | 2,198 | ENSG00000129195 | 2,199 | 2,198 | ENSG00000129195 | distal | NA | NA | |
17 | 6,450,713 | C | G | false | 3_prime_UTR_variant | 918 | rs1051443 | 0.000169 | 0.16045 | 26.605 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000129195 | 0 | ENSG00000129195 | 271 | 0 | ENSG00000129195 | 3_prime_UTR_variant | ENSG00000129195 | 3,217 | ENSG00000129195 | 3,365 | 3,217 | ENSG00000129195 | 3_prime_UTR_variant | NA | NA | |
17 | 6,454,514 | C | A | false | 3_prime_UTR_variant | 912 | rs111943449 | 0.00042 | 0.014752 | 19.275 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000091622 | 0 | ENSG00000091622 | 876 | 0 | ENSG00000091622 | 3_prime_UTR_variant | ENSG00000129195 | 7,018 | ENSG00000129195 | 7,166 | 7,018 | ENSG00000129195 | 3_prime_UTR_variant | NA | NA | |
17 | 6,454,762 | A | G | false | 3_prime_UTR_variant | 912 | rs570375031 | 0.000367 | 0.015915 | 21.576 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000091622 | 0 | ENSG00000091622 | 628 | 0 | ENSG00000091622 | 3_prime_UTR_variant | ENSG00000129195 | 7,266 | ENSG00000129195 | 7,414 | 7,266 | ENSG00000129195 | 3_prime_UTR_variant | NA | NA | |
17 | 6,608,421 | T | C | false | missense_variant | 810 | rs61735441 | 0.000138 | 0.011197 | 7.8456 | missense_variant | missense_variant | ENSG00000198920 | 0 | ENSG00000198920 | 0 | 0 | ENSG00000198920 | missense_variant | ENSG00000198920 | 13,421 | ENSG00000198920 | 1,492 | 1,492 | ENSG00000198920 | missense_variant | NA | NA | |
17 | 6,644,101 | C | T | false | 3_prime_UTR_variant | 916 | rs141923325 | 0.000592 | 0.037396 | 12.348 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000129235 | 0 | ENSG00000129235 | 977 | 0 | ENSG00000129235 | 3_prime_UTR_variant | ENSG00000129235 | 3,040 | ENSG00000129235 | 2,442 | 2,442 | ENSG00000129235 | 3_prime_UTR_variant | NA | NA | |
17 | 6,651,296 | C | G | false | tss_proximal | 867 | rs17842439 | 0.008458 | 0.02636 | 50.442 | intron_variant | pELS | ENSG00000108590 | 52 | ENSG00000108590 | 204 | 52 | ENSG00000108590 | tss_proximal | ENSG00000108590 | 130 | ENSG00000108590 | 278 | 130 | ENSG00000108590 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 6,653,007 | G | A | false | 3_prime_UTR_variant | 910 | rs4796532 | 0.00154 | 0.16993 | 98.897 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000256806 | 0 | ENSG00000256806 | 412 | 0 | ENSG00000256806 | 3_prime_UTR_variant | ENSG00000256806 | 1,244 | ENSG00000256806 | 842 | 842 | ENSG00000256806 | 3_prime_UTR_variant | NA | NA | |
17 | 6,688,433 | C | A | false | non_coding_transcript_exon_variant | 863 | rs218693 | 0.001122 | 0.49492 | 26.129 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000141485 | 766 | ENSG00000141485 | 0 | 0 | ENSG00000141485 | non_coding_transcript_exon_variant | ENSG00000141485 | 2,450 | ENSG00000141485 | 1,686 | 1,686 | ENSG00000141485 | non_coding_transcript_exon_variant | NA | NA | |
17 | 6,690,603 | T | C | false | tss_proximal | 904 | rs218696 | 0.001838 | 0.46789 | 26.773 | intron_variant | intron_variant | ENSG00000141485 | 175 | ENSG00000141485 | 175 | 175 | ENSG00000141485 | tss_proximal | ENSG00000141485 | 280 | ENSG00000141485 | 482 | 280 | ENSG00000141485 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 6,780,684 | C | G | false | synonymous_variant | 894 | rs17731806 | 0.000186 | 0.058321 | 19.861 | synonymous_variant | synonymous_variant | ENSG00000177294 | 0 | ENSG00000279296 | 4,567 | 0 | ENSG00000177294 | synonymous_variant | ENSG00000177294 | 4,468 | ENSG00000279296 | 4,567 | 4,468 | ENSG00000177294 | synonymous_variant | NA | NA | |
17 | 6,947,049 | C | T | false | distal | 924 | rs9630721 | 0.000542 | 0.39969 | 43.441 | intron_variant | intron_variant | ENSG00000108839 | 48,999 | ENSG00000262943 | 6,611 | 6,611 | ENSG00000262943 | intron_variant | ENSG00000108839 | 48,999 | ENSG00000262503 | 18,857 | 18,857 | ENSG00000262503 | distal | NA | NA | |
17 | 6,947,142 | G | A | false | distal | 924 | rs9630722 | 0.00064 | 0.40149 | 43.254 | intron_variant | intron_variant | ENSG00000108839 | 48,906 | ENSG00000262943 | 6,518 | 6,518 | ENSG00000262943 | intron_variant | ENSG00000108839 | 48,906 | ENSG00000262503 | 18,950 | 18,950 | ENSG00000262503 | distal | NA | NA | |
17 | 6,966,132 | T | C | false | distal | 921 | rs139102984 | 0.002277 | 0.088083 | 54.546 | intron_variant | CA_flank | ENSG00000108839 | 29,916 | ENSG00000263316 | 7,170 | 7,170 | ENSG00000263316 | CA_flank | ENSG00000108839 | 29,916 | ENSG00000263316 | 12,827 | 12,827 | ENSG00000263316 | distal | NA | NA | |
17 | 7,026,799 | G | T | false | synonymous_variant | 896 | rs61739754 | 0.000075 | 0.008424 | 6.0251 | synonymous_variant | synonymous_variant | ENSG00000161940 | 0 | ENSG00000161940 | 0 | 0 | ENSG00000161940 | synonymous_variant | ENSG00000161940 | 297 | ENSG00000161940 | 7 | 7 | ENSG00000161940 | synonymous_variant | NA | NA | |
17 | 7,042,968 | T | C | false | missense_variant | 832 | rs13342692 | 0.000087 | 0.009147 | 38.943 | missense_variant | missense_variant | ENSG00000174326 | 0 | ENSG00000174326 | 0 | 0 | ENSG00000174326 | missense_variant | ENSG00000174326 | 1,123 | ENSG00000174326 | 637 | 637 | ENSG00000174326 | missense_variant | NA | NA | |
17 | 7,044,074 | G | C | false | 5_prime_UTR_variant | 886 | rs77086571 | 0.000144 | 0.006371 | 43.361 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000174326 | 0 | ENSG00000174326 | 467 | 0 | ENSG00000174326 | 5_prime_UTR_variant | ENSG00000174326 | 17 | ENSG00000174326 | 467 | 17 | ENSG00000174326 | 5_prime_UTR_variant | NA | NA | |
17 | 7,051,740 | G | C | false | distal | 859 | rs36100967 | 0.000627 | 0.20425 | 48.15 | intergenic_variant | dELS_flank | ENSG00000174326 | 7,647 | ENSG00000262067 | 7,193 | 7,193 | ENSG00000262067 | dELS_flank | ENSG00000174326 | 7,647 | ENSG00000262067 | 7,193 | 7,193 | ENSG00000262067 | distal | NA | NA | |
17 | 7,080,758 | C | A | false | tss_proximal | 900 | rs314229 | 0.0001 | 0.042245 | 56.604 | upstream_gene_variant | pELS | ENSG00000132514 | 450 | ENSG00000132514 | 513 | 450 | ENSG00000132514 | tss_proximal | ENSG00000132514 | 450 | ENSG00000132514 | 513 | 450 | ENSG00000132514 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 7,112,761 | C | G | false | distal | 839 | rs10438727 | 0.00033 | 0.21688 | 40.146 | intron_variant | pELS | ENSG00000161944 | 1,355 | ENSG00000161944 | 1,412 | 1,355 | ENSG00000161944 | pELS | ENSG00000161944 | 1,478 | ENSG00000161944 | 2,063 | 1,478 | ENSG00000161944 | distal | NA | NA | |
17 | 7,115,418 | C | T | false | 5_prime_UTR_variant | 886 | rs188752097 | 0.000067 | 0.006514 | 7.2166 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000161944 | 0 | ENSG00000161944 | 402 | 0 | ENSG00000161944 | 5_prime_UTR_variant | ENSG00000161944 | 281 | ENSG00000161944 | 402 | 281 | ENSG00000161944 | 5_prime_UTR_variant | NA | NA | |
17 | 7,116,978 | T | C | true | distal | 905 | rs535064984 | 1 | ALP | 0.007242 | 11.465 | intergenic_variant | intergenic_variant | ENSG00000161944 | 1,277 | ENSG00000161944 | 1,962 | 1,277 | ENSG00000161944 | intergenic_variant | ENSG00000161944 | 1,277 | ENSG00000161944 | 1,962 | 1,277 | ENSG00000161944 | distal | NA | NA |
17 | 7,118,345 | A | G | true | distal | 847 | rs8079999 | 0.999505 | ALP | 0.34286 | 51.179 | intergenic_variant | dELS_flank | ENSG00000161944 | 2,644 | ENSG00000161944 | 3,329 | 2,644 | ENSG00000161944 | dELS_flank | ENSG00000161944 | 2,644 | ENSG00000161944 | 3,329 | 2,644 | ENSG00000161944 | distal | NA | NA |
17 | 7,138,927 | T | C | false | distal | 841 | rs1237044 | 0.000251 | 0.42072 | 34.12 | intron_variant | pELS | ENSG00000161944 | 23,226 | ENSG00000289977 | 1,128 | 1,128 | ENSG00000289977 | pELS | ENSG00000161944 | 23,226 | ENSG00000289977 | 1,578 | 1,578 | ENSG00000289977 | distal | NA | NA | |
17 | 7,146,469 | G | A | false | distal | 862 | rs220992 | 0.000335 | 0.46965 | 33.577 | intergenic_variant | dELS_flank | ENSG00000141505 | 26,961 | ENSG00000289977 | 1,701 | 1,701 | ENSG00000289977 | dELS_flank | ENSG00000141505 | 30,576 | ENSG00000213876 | 5,538 | 5,538 | ENSG00000213876 | distal | NA | NA | |
17 | 7,166,093 | G | A | true | distal | 848 | rs186021206 | 1 | ALP,Alb,ApoB,CRP,LDLC,TC | 0.006571 | 8.6936 | intergenic_variant | dELS_flank | ENSG00000141505 | 7,337 | ENSG00000141505 | 10,520 | 7,337 | ENSG00000141505 | dELS_flank | ENSG00000141505 | 10,952 | ENSG00000141505 | 13,282 | 10,952 | ENSG00000141505 | distal | NA | NA |
17 | 7,176,997 | C | T | true | synonymous_variant | 895 | rs55714927 | 1 | ALP,LDLC | 0.19196 | 43.82 | synonymous_variant | synonymous_variant | ENSG00000141505 | 0 | ENSG00000141505 | 0 | 0 | ENSG00000141505 | synonymous_variant | ENSG00000141505 | 48 | ENSG00000141505 | 2,378 | 48 | ENSG00000141505 | synonymous_variant | NA | NA |
17 | 7,203,059 | G | A | true | splicing | 909 | rs200489612 | 1 | ALP,ApoB,LDLC | 0.005329 | 7.3772 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000132535 | 11 | ENSG00000132535 | 11 | 11 | ENSG00000132535 | splice_polypyrimidine_tract_variant | ENSG00000132535 | 1,442 | ENSG00000132535 | 4,235 | 1,442 | ENSG00000132535 | splicing | NA | splicing:b1 |
17 | 7,207,094 | G | A | false | 5_prime_UTR_variant | 890 | rs222856 | 0.001341 | 0.020466 | 12.694 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000132535 | 0 | ENSG00000132535 | 0 | 0 | ENSG00000132535 | 5_prime_UTR_variant | ENSG00000132535 | 200 | ENSG00000132535 | 200 | 200 | ENSG00000132535 | 5_prime_UTR_variant | NA | NA | |
17 | 7,237,821 | C | G | true | tss_proximal | 898 | rs77234976 | 0.993655 | Lym | 0.1452 | 33.549 | intron_variant | pELS | ENSG00000040633 | 160 | ENSG00000040633 | 26 | 26 | ENSG00000040633 | tss_proximal | ENSG00000040633 | 349 | ENSG00000040633 | 26 | 26 | ENSG00000040633 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 7,282,460 | C | A | true | tss_proximal | 867 | rs117643180 | 0.99966 | ALT | 0.026033 | 25.532 | intron_variant | pELS | ENSG00000181856 | 30 | ENSG00000263342 | 486 | 30 | ENSG00000181856 | tss_proximal | ENSG00000181856 | 329 | ENSG00000181856 | 651 | 329 | ENSG00000181856 | tss_proximal | tss_prox:b1 | tss_prox:b0 |
17 | 7,317,419 | C | G | false | tss_proximal | 932 | rs567337724 | 0.000667 | 0.002212 | 4.4851 | intron_variant | pELS | ENSG00000215041 | 41 | ENSG00000215041 | 41 | 41 | ENSG00000215041 | tss_proximal | ENSG00000132522 | 2,058 | ENSG00000215041 | 488 | 488 | ENSG00000215041 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 7,321,114 | C | T | false | missense_variant | 827 | rs79385421 | 0.000897 | 0.027033 | 21.397 | missense_variant | missense_variant | ENSG00000215041 | 0 | ENSG00000215041 | 0 | 0 | ENSG00000215041 | missense_variant | ENSG00000132522 | 5,753 | ENSG00000215041 | 304 | 304 | ENSG00000215041 | missense_variant | NA | NA | |
17 | 7,322,782 | G | A | false | missense_variant | 836 | rs200046311 | 0.001059 | 0.003666 | 4.1743 | missense_variant | missense_variant | ENSG00000215041 | 0 | ENSG00000215041 | 0 | 0 | ENSG00000215041 | missense_variant | ENSG00000215041 | 6,483 | ENSG00000215041 | 181 | 181 | ENSG00000215041 | missense_variant | NA | NA | |
17 | 7,327,526 | G | T | false | missense_variant | 816 | rs11655578 | 0.000295 | 0.21034 | 27.688 | missense_variant | missense_variant | ENSG00000215041 | 0 | ENSG00000215041 | 25 | 0 | ENSG00000215041 | missense_variant | ENSG00000215041 | 1,739 | ENSG00000215041 | 25 | 25 | ENSG00000215041 | missense_variant | NA | NA | |
17 | 7,329,843 | C | G | false | tss_proximal | 903 | rs3809817 | 0.002013 | 0.35897 | 38.992 | upstream_gene_variant | pELS | ENSG00000215041 | 449 | ENSG00000224647 | 608 | 449 | ENSG00000215041 | tss_proximal | ENSG00000215041 | 449 | ENSG00000224647 | 608 | 449 | ENSG00000215041 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 7,336,592 | A | G | false | 5_prime_UTR_variant | 892 | rs3809827 | 0.000587 | 0.24781 | 25.796 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000072818 | 0 | ENSG00000072818 | 4 | 0 | ENSG00000072818 | 5_prime_UTR_variant | ENSG00000072818 | 1 | ENSG00000072818 | 4 | 1 | ENSG00000072818 | 5_prime_UTR_variant | NA | NA | |
17 | 7,420,585 | G | A | false | tss_proximal | 869 | rs73977668 | 0.001606 | 0.074372 | 70.295 | intron_variant | PLS_flank | ENSG00000181323 | 41 | ENSG00000262880 | 41 | 41 | ENSG00000181323 | tss_proximal | ENSG00000181323 | 260 | ENSG00000262880 | 481 | 260 | ENSG00000181323 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 7,426,313 | T | G | false | missense_variant | 825 | rs13290 | 0.000254 | 0.34674 | 69.654 | missense_variant | missense_variant | ENSG00000184560 | 0 | ENSG00000286007 | 2,547 | 0 | ENSG00000184560 | missense_variant | ENSG00000184560 | 671 | ENSG00000286007 | 2,547 | 671 | ENSG00000184560 | missense_variant | NA | NA | |
17 | 7,443,983 | G | A | false | 3_prime_UTR_variant | 913 | rs111650828 | 0.000174 | 0.01251 | 21.777 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000161958 | 0 | ENSG00000262880 | 0 | 0 | ENSG00000161958 | 3_prime_UTR_variant | ENSG00000170175 | 1,077 | ENSG00000263301 | 655 | 655 | ENSG00000263301 | 3_prime_UTR_variant | NA | NA | |
17 | 7,454,545 | C | A | false | splicing | 922 | rs7210231 | 0.006189 | 0.21189 | 193.2 | intron_variant | pELS_flank | ENSG00000170175 | 24 | ENSG00000170175 | 24 | 24 | ENSG00000170175 | exon_proximal | ENSG00000170175 | 1,048 | ENSG00000170175 | 9,001 | 1,048 | ENSG00000170175 | splicing | NA | splicing:b1 | |
17 | 7,463,300 | T | C | true | missense_variant | 815 | rs34914463 | 0.960435 | Hb | 0.13232 | 146.7 | missense_variant | missense_variant | ENSG00000174282 | 0 | ENSG00000170175 | 7,610 | 0 | ENSG00000174282 | missense_variant | ENSG00000170175 | 7,705 | ENSG00000170175 | 17,756 | 7,705 | ENSG00000170175 | missense_variant | NA | NA |
17 | 7,463,332 | C | G | false | missense_variant | 815 | rs871990 | 0.000775 | 0.14451 | 140.66 | missense_variant | missense_variant | ENSG00000174282 | 0 | ENSG00000170175 | 7,642 | 0 | ENSG00000174282 | missense_variant | ENSG00000170175 | 7,737 | ENSG00000170175 | 17,788 | 7,737 | ENSG00000170175 | missense_variant | NA | NA | |
17 | 7,467,286 | G | A | false | 5_prime_UTR_variant | 891 | rs3853894 | 0.000741 | 0.14381 | 142.38 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000174282 | 0 | ENSG00000170175 | 11,596 | 0 | ENSG00000174282 | 5_prime_UTR_variant | ENSG00000170175 | 11,691 | ENSG00000181222 | 17,079 | 11,691 | ENSG00000170175 | 5_prime_UTR_variant | NA | NA | |
17 | 7,477,851 | C | T | true | distal | 844 | rs75821240 | 0.97538 | HbA1c | 0.011933 | 15.972 | intron_variant | pELS_flank | ENSG00000174282 | 1,604 | ENSG00000181222 | 6,514 | 1,604 | ENSG00000174282 | pELS_flank | ENSG00000174282 | 1,779 | ENSG00000181222 | 6,514 | 1,779 | ENSG00000174282 | distal | NA | NA |
17 | 7,482,771 | G | A | false | missense_variant | 825 | rs7209977 | 0.002054 | 0.35925 | 132.68 | missense_variant | missense_variant | ENSG00000259224 | 0 | ENSG00000181222 | 1,594 | 0 | ENSG00000259224 | missense_variant | ENSG00000259224 | 1,324 | ENSG00000181222 | 1,594 | 1,324 | ENSG00000259224 | missense_variant | NA | NA | |
17 | 7,498,927 | G | A | true | non_coding_transcript_exon_variant | 864 | rs144713037 | 0.999995 | SHBG | 0.005161 | 6.7096 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000181222 | 111 | ENSG00000181222 | 0 | 0 | ENSG00000181222 | non_coding_transcript_exon_variant | ENSG00000181222 | 14,560 | ENSG00000181222 | 100 | 100 | ENSG00000181222 | non_coding_transcript_exon_variant | NA | NA |
17 | 7,550,188 | C | A | false | missense_variant | 811 | rs62059804 | 0.009027 | 0.27036 | 133.85 | missense_variant | missense_variant | ENSG00000239697 | 0 | ENSG00000239697 | 0 | 0 | ENSG00000239697 | missense_variant | ENSG00000248871 | 1,088 | ENSG00000239697 | 376 | 376 | ENSG00000239697 | missense_variant | NA | NA | |
17 | 7,557,640 | G | T | true | 3_prime_UTR_variant | 910 | rs9907657 | 1 | TP | 0.16722 | 113.61 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000239697 | 0 | ENSG00000239697 | 0 | 0 | ENSG00000239697 | 3_prime_UTR_variant | ENSG00000161955 | 651 | ENSG00000276384 | 604 | 604 | ENSG00000276384 | 3_prime_UTR_variant | NA | NA |
17 | 7,558,697 | C | T | true | 5_prime_UTR_variant | 886 | rs187256434 | 0.99974 | AG,NAP,TP | 0.005921 | 9.0992 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000161955 | 0 | ENSG00000276384 | 451 | 0 | ENSG00000161955 | 5_prime_UTR_variant | ENSG00000161955 | 52 | ENSG00000276384 | 451 | 52 | ENSG00000161955 | 5_prime_UTR_variant | NA | NA |
17 | 7,558,933 | G | A | true | 5_prime_UTR_variant | 887 | rs181623923 | 1 | AG,NAP,TP | 0.007766 | 21.035 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000161955 | 0 | ENSG00000276384 | 687 | 0 | ENSG00000161955 | 5_prime_UTR_variant | ENSG00000161955 | 145 | ENSG00000276384 | 687 | 145 | ENSG00000161955 | 5_prime_UTR_variant | NA | NA |
17 | 7,559,652 | A | G | true | missense_variant | 816 | rs3803800 | 1 | AG,NAP,TP | 0.21132 | 111.79 | missense_variant | missense_variant | ENSG00000161955 | 0 | ENSG00000276384 | 1,406 | 0 | ENSG00000161955 | missense_variant | ENSG00000161955 | 864 | ENSG00000276384 | 1,406 | 864 | ENSG00000161955 | missense_variant | NA | NA |
17 | 7,559,785 | G | A | true | tss_proximal | 868 | rs143094271 | 0.996005 | TP | 0.021681 | 49.515 | intron_variant | pELS_flank | ENSG00000248871 | 60 | ENSG00000276384 | 1,539 | 60 | ENSG00000248871 | tss_proximal | ENSG00000161955 | 997 | ENSG00000276384 | 1,539 | 997 | ENSG00000161955 | tss_proximal | tss_prox:b1 | tss_prox:b0 |
17 | 7,563,556 | C | T | false | synonymous_variant | 896 | rs147458538 | 0.000108 | 0.008447 | 7.2464 | synonymous_variant | synonymous_variant | ENSG00000161956 | 0 | ENSG00000277957 | 0 | 0 | ENSG00000161956 | synonymous_variant | ENSG00000161956 | 1,286 | ENSG00000277957 | 268 | 268 | ENSG00000277957 | synonymous_variant | NA | NA | |
17 | 7,588,013 | C | T | true | 3_prime_UTR_variant | 911 | rs545206972 | 1 | SHBG | 0.006878 | 25.364 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000129255 | 0 | ENSG00000129255 | 0 | 0 | ENSG00000129255 | 3_prime_UTR_variant | ENSG00000129194 | 2,058 | ENSG00000129255 | 1,543 | 1,543 | ENSG00000129255 | 3_prime_UTR_variant | NA | NA |
17 | 7,591,966 | G | A | false | tss_proximal | 932 | rs187014451 | 0.000109 | 0.001222 | 5.9821 | intron_variant | pELS | ENSG00000129245 | 40 | ENSG00000129245 | 40 | 40 | ENSG00000129245 | tss_proximal | ENSG00000129194 | 1,871 | ENSG00000129245 | 390 | 390 | ENSG00000129245 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 7,629,797 | C | T | true | tss_proximal | 899 | rs80279359 | 1 | SHBG,Testosterone_M | 0.00845 | 17.977 | intron_variant | PLS_flank | ENSG00000129214 | 296 | ENSG00000129214 | 354 | 296 | ENSG00000129214 | tss_proximal | ENSG00000129214 | 296 | ENSG00000129214 | 354 | 296 | ENSG00000129214 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 7,630,105 | G | A | true | 5_prime_UTR_variant | 888 | rs1799941 | 1 | SHBG,Testosterone_M | 0.26062 | 127.51 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000129214 | 0 | ENSG00000129214 | 46 | 0 | ENSG00000129214 | 5_prime_UTR_variant | ENSG00000129214 | 10 | ENSG00000129214 | 46 | 10 | ENSG00000129214 | 5_prime_UTR_variant | NA | NA |
17 | 7,630,143 | T | C | true | 5_prime_UTR_variant | 889 | rs184782320 | 1 | SHBG,Testosterone_M | 0.004788 | 6.8314 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000129214 | 0 | ENSG00000129214 | 8 | 0 | ENSG00000129214 | 5_prime_UTR_variant | ENSG00000129214 | 7 | ENSG00000129214 | 8 | 7 | ENSG00000129214 | 5_prime_UTR_variant | NA | NA |
17 | 7,630,424 | C | T | true | synonymous_variant | 896 | rs9282846 | 0.990965 | SHBG | 0.008068 | 14.315 | synonymous_variant | synonymous_variant | ENSG00000129214 | 0 | ENSG00000129214 | 0 | 0 | ENSG00000129214 | synonymous_variant | ENSG00000129214 | 169 | ENSG00000129214 | 271 | 169 | ENSG00000129214 | synonymous_variant | NA | NA |
17 | 7,630,583 | C | T | false | tss_proximal | 869 | rs9913778 | 0.005238 | 0.075912 | 73.752 | intron_variant | PLS_flank | ENSG00000129214 | 75 | ENSG00000129214 | 75 | 75 | ENSG00000129214 | tss_proximal | ENSG00000129214 | 328 | ENSG00000129214 | 430 | 328 | ENSG00000129214 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 7,633,209 | G | A | true | missense_variant | 817 | rs6259 | 1 | SHBG | 0.12683 | 149.93 | missense_variant | missense_variant | ENSG00000129214 | 0 | ENSG00000129214 | 0 | 0 | ENSG00000129214 | missense_variant | ENSG00000129214 | 2,954 | ENSG00000129214 | 1,899 | 1,899 | ENSG00000129214 | missense_variant | NA | NA |
17 | 7,660,509 | C | A | true | distal | 919 | rs2908806 | 0.980475 | TC | 0.16859 | 42.879 | intergenic_variant | CA_flank | ENSG00000141510 | 1,269 | ENSG00000141510 | 4,906 | 1,269 | ENSG00000141510 | CA_flank | ENSG00000129244 | 6,399 | ENSG00000141510 | 14,609 | 6,399 | ENSG00000129244 | distal | NA | NA |
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