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 | 75,242,427 | T | C | false | missense_variant | 831 | rs52809447 | 0.000111 | 0.012749 | 13.983 | missense_variant | missense_variant | ENSG00000125447 | 0 | ENSG00000125447 | 0 | 0 | ENSG00000125447 | missense_variant | ENSG00000125447 | 3,345 | ENSG00000125447 | 58 | 58 | ENSG00000125447 | missense_variant | NA | NA | |
17 | 75,264,217 | A | G | false | 3_prime_UTR_variant | 910 | rs4788878 | 0.009972 | 0.16559 | 280.82 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000125445 | 0 | ENSG00000125445 | 709 | 0 | ENSG00000125445 | 3_prime_UTR_variant | ENSG00000125445 | 1,543 | ENSG00000125445 | 1,607 | 1,543 | ENSG00000125445 | 3_prime_UTR_variant | NA | NA | |
17 | 75,265,787 | G | A | false | missense_variant | 812 | rs35418346 | 0.000149 | 0.004977 | 23.918 | missense_variant | missense_variant | ENSG00000125445 | 0 | ENSG00000125445 | 0 | 0 | ENSG00000125445 | missense_variant | ENSG00000125445 | 3,113 | ENSG00000125457 | 2,873 | 2,873 | ENSG00000125457 | missense_variant | NA | NA | |
17 | 75,273,067 | G | A | false | 3_prime_UTR_variant | 911 | rs192494814 | 0.000149 | 0.00686 | 17.877 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000125454 | 0 | ENSG00000263843 | 0 | 0 | ENSG00000125454 | 3_prime_UTR_variant | ENSG00000125457 | 1,835 | ENSG00000263843 | 1,668 | 1,668 | ENSG00000263843 | 3_prime_UTR_variant | NA | NA | |
17 | 75,340,864 | T | G | false | distal | 840 | rs55681135 | 0.000272 | 0.027731 | 96.133 | intron_variant | pELS | ENSG00000177885 | 8,066 | ENSG00000228007 | 1,716 | 1,716 | ENSG00000228007 | pELS | ENSG00000177885 | 19,110 | ENSG00000228007 | 2,036 | 2,036 | ENSG00000228007 | distal | NA | NA | |
17 | 75,353,716 | C | T | true | distal | 858 | rs4789174 | 1 | BW | 0.21241 | 337.5 | intron_variant | dELS_flank | ENSG00000177885 | 20,918 | ENSG00000265987 | 9,278 | 9,278 | ENSG00000265987 | dELS_flank | ENSG00000177885 | 31,962 | ENSG00000265987 | 9,310 | 9,310 | ENSG00000265987 | distal | NA | NA |
17 | 75,440,803 | C | A | false | tss_proximal | 897 | rs59838449 | 0.000126 | 0.038314 | 191.47 | upstream_gene_variant | dELS | ENSG00000177728 | 355 | ENSG00000202332 | 8,715 | 355 | ENSG00000177728 | tss_proximal | ENSG00000177728 | 355 | ENSG00000202332 | 8,812 | 355 | ENSG00000177728 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 75,441,371 | C | T | false | tss_proximal | 897 | rs9912881 | 0.000124 | 0.038822 | 192.17 | intron_variant | dELS_flank | ENSG00000177728 | 127 | ENSG00000202332 | 9,283 | 127 | ENSG00000177728 | tss_proximal | ENSG00000177728 | 211 | ENSG00000202332 | 9,380 | 211 | ENSG00000177728 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 75,456,875 | T | C | false | tss_proximal | 902 | rs34042490 | 0.000165 | 0.1888 | 218.84 | intron_variant | pELS | ENSG00000177728 | 123 | ENSG00000177728 | 123 | 123 | ENSG00000177728 | tss_proximal | ENSG00000177728 | 224 | ENSG00000177728 | 214 | 214 | ENSG00000177728 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 75,489,490 | G | A | false | tss_proximal | 932 | rs141487109 | 0.000504 | 0.002344 | 4.9636 | intron_variant | dELS | ENSG00000177728 | 85 | ENSG00000177728 | 85 | 85 | ENSG00000177728 | tss_proximal | ENSG00000177728 | 1,558 | ENSG00000177728 | 567 | 567 | ENSG00000177728 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 75,522,482 | G | C | false | synonymous_variant | 895 | rs67746118 | 0.001043 | 0.19696 | 172.37 | synonymous_variant | synonymous_variant | ENSG00000182173 | 0 | ENSG00000182173 | 0 | 0 | ENSG00000182173 | synonymous_variant | ENSG00000073350 | 2,597 | ENSG00000182173 | 669 | 669 | ENSG00000182173 | synonymous_variant | NA | NA | |
17 | 75,522,769 | C | T | false | 3_prime_UTR_variant | 910 | rs1133934 | 0.005598 | 0.16609 | 168.49 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000182173 | 247 | ENSG00000182173 | 0 | 0 | ENSG00000182173 | 3_prime_UTR_variant | ENSG00000073350 | 2,310 | ENSG00000182173 | 382 | 382 | ENSG00000182173 | 3_prime_UTR_variant | NA | NA | |
17 | 75,532,528 | A | G | false | 5_prime_UTR_variant | 891 | rs56326161 | 0.000382 | 0.1196 | 106.65 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000073350 | 0 | ENSG00000182173 | 7,792 | 0 | ENSG00000073350 | 5_prime_UTR_variant | ENSG00000073350 | 34 | ENSG00000182173 | 9,375 | 34 | ENSG00000073350 | 5_prime_UTR_variant | NA | NA | |
17 | 75,571,670 | C | T | false | missense_variant | 822 | rs34255252 | 0.00021 | 0.00177 | 12.058 | missense_variant | missense_variant | ENSG00000073350 | 0 | ENSG00000073350 | 0 | 0 | ENSG00000073350 | missense_variant | ENSG00000266714 | 16,129 | ENSG00000073350 | 244 | 244 | ENSG00000073350 | missense_variant | NA | NA | |
17 | 75,571,720 | G | A | false | missense_variant | 810 | rs148020757 | 0.000239 | 0.009359 | 17.506 | missense_variant | missense_variant | ENSG00000073350 | 0 | ENSG00000073350 | 0 | 0 | ENSG00000073350 | missense_variant | ENSG00000266714 | 16,079 | ENSG00000073350 | 294 | 294 | ENSG00000073350 | missense_variant | NA | NA | |
17 | 75,573,585 | C | T | false | missense_variant | 810 | rs142772898 | 0.000075 | 0.01326 | 17.519 | missense_variant | missense_variant | ENSG00000073350 | 0 | ENSG00000073350 | 0 | 0 | ENSG00000073350 | missense_variant | ENSG00000266714 | 14,214 | ENSG00000073350 | 7 | 7 | ENSG00000073350 | missense_variant | NA | NA | |
17 | 75,591,176 | A | G | false | missense_variant | 827 | rs147655466 | 0.000381 | 0.026008 | 115.83 | missense_variant | missense_variant | ENSG00000266714 | 0 | ENSG00000266714 | 0 | 0 | ENSG00000266714 | missense_variant | ENSG00000266714 | 3,375 | ENSG00000266714 | 291 | 291 | ENSG00000266714 | missense_variant | NA | NA | |
17 | 75,610,229 | G | A | false | synonymous_variant | 895 | rs11657863 | 0.000605 | 0.19465 | 79.717 | synonymous_variant | synonymous_variant | ENSG00000266714 | 0 | ENSG00000266714 | 0 | 0 | ENSG00000266714 | synonymous_variant | ENSG00000266714 | 469 | ENSG00000266714 | 3,063 | 469 | ENSG00000266714 | synonymous_variant | NA | NA | |
17 | 75,613,031 | G | A | false | missense_variant | 824 | rs820142 | 0.000161 | 0.48233 | 74.158 | missense_variant | missense_variant | ENSG00000266714 | 0 | ENSG00000266714 | 0 | 0 | ENSG00000266714 | missense_variant | ENSG00000266714 | 2,331 | ENSG00000266714 | 261 | 261 | ENSG00000266714 | missense_variant | NA | NA | |
17 | 75,613,435 | C | T | false | missense_variant | 827 | rs113730899 | 0.000071 | 0.02376 | 108.41 | missense_variant | missense_variant | ENSG00000266714 | 0 | ENSG00000266714 | 0 | 0 | ENSG00000266714 | missense_variant | ENSG00000266714 | 2,735 | ENSG00000266714 | 141 | 141 | ENSG00000266714 | missense_variant | NA | NA | |
17 | 75,631,119 | C | T | false | tss_proximal | 932 | rs201566064 | 0.000075 | 0.002585 | 8.6533 | intron_variant | pELS_flank | ENSG00000108469 | 30 | ENSG00000108469 | 30 | 30 | ENSG00000108469 | tss_proximal | ENSG00000108469 | 1,676 | ENSG00000108469 | 484 | 484 | ENSG00000108469 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 75,667,292 | A | T | false | 5_prime_UTR_variant | 892 | rs820156 | 0.000106 | 0.23979 | 110.11 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000161526 | 45 | ENSG00000161526 | 0 | 0 | ENSG00000161526 | 5_prime_UTR_variant | ENSG00000161526 | 45 | ENSG00000161526 | 40 | 40 | ENSG00000161526 | 5_prime_UTR_variant | NA | NA | |
17 | 75,678,025 | G | A | false | distal | 842 | rs820134 | 0.003 | 0.33263 | 141.38 | intron_variant | pELS | ENSG00000161526 | 6,161 | ENSG00000264829 | 1,448 | 1,448 | ENSG00000264829 | pELS | ENSG00000161526 | 9,508 | ENSG00000264829 | 1,941 | 1,941 | ENSG00000264829 | distal | NA | NA | |
17 | 75,678,897 | T | C | false | distal | 842 | rs820135 | 0.001462 | 0.34101 | 143.79 | intron_variant | pELS | ENSG00000161526 | 7,033 | ENSG00000264829 | 576 | 576 | ENSG00000264829 | pELS | ENSG00000161526 | 10,380 | ENSG00000264829 | 1,069 | 1,069 | ENSG00000264829 | distal | NA | NA | |
17 | 75,689,222 | C | T | false | distal | 870 | rs820221 | 0.000522 | 0.34744 | 140.68 | intron_variant | dELS | ENSG00000161526 | 1,448 | ENSG00000161526 | 1,448 | 1,448 | ENSG00000161526 | dELS | ENSG00000161526 | 2,821 | ENSG00000161526 | 2,347 | 2,347 | ENSG00000161526 | distal | NA | NA | |
17 | 75,693,838 | A | G | false | distal | 877 | rs820216 | 0.000998 | 0.34226 | 138.6 | intron_variant | dELS | ENSG00000161526 | 355 | ENSG00000161526 | 355 | 355 | ENSG00000161526 | dELS | ENSG00000161526 | 1,291 | ENSG00000161526 | 2,267 | 1,291 | ENSG00000161526 | distal | NA | NA | |
17 | 75,756,873 | C | T | false | tss_proximal | 868 | rs78884789 | 0.001206 | 0.016092 | 12.009 | intron_variant | dELS | ENSG00000132470 | 13 | ENSG00000132470 | 1,064 | 13 | ENSG00000132470 | tss_proximal | ENSG00000132470 | 165 | ENSG00000108479 | 1,644 | 165 | ENSG00000132470 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 75,757,422 | T | C | false | missense_variant | 816 | rs871443 | 0.000187 | 0.21465 | 56.186 | missense_variant | missense_variant | ENSG00000132470 | 0 | ENSG00000108479 | 549 | 0 | ENSG00000132470 | missense_variant | ENSG00000132470 | 382 | ENSG00000108479 | 1,095 | 382 | ENSG00000132470 | missense_variant | NA | NA | |
17 | 75,843,245 | C | T | false | missense_variant | 832 | rs9904366 | 0.001643 | 0.01069 | 57.385 | missense_variant | missense_variant | ENSG00000092929 | 0 | ENSG00000092929 | 0 | 0 | ENSG00000092929 | missense_variant | ENSG00000092929 | 523 | ENSG00000092929 | 498 | 498 | ENSG00000092929 | missense_variant | NA | NA | |
17 | 75,844,597 | G | A | false | 5_prime_UTR_variant | 890 | rs113482537 | 0.00025 | 0.020731 | 43.552 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000092929 | 0 | ENSG00000092929 | 136 | 0 | ENSG00000092929 | 5_prime_UTR_variant | ENSG00000092929 | 44 | ENSG00000092929 | 178 | 44 | ENSG00000092929 | 5_prime_UTR_variant | NA | NA | |
17 | 75,854,859 | T | C | true | tss_proximal | 902 | rs57287238 | 1 | BW | 0.18744 | 162.12 | intron_variant | pELS | ENSG00000132471 | 264 | ENSG00000132471 | 320 | 264 | ENSG00000132471 | tss_proximal | ENSG00000132471 | 344 | ENSG00000132471 | 448 | 344 | ENSG00000132471 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 75,862,857 | A | G | false | distal | 859 | rs11870121 | 0.002758 | 0.20772 | 167.69 | intergenic_variant | dELS_flank | ENSG00000132471 | 6,349 | ENSG00000132471 | 7,519 | 6,349 | ENSG00000132471 | dELS_flank | ENSG00000132471 | 6,349 | ENSG00000132471 | 7,519 | 6,349 | ENSG00000132471 | distal | NA | NA | |
17 | 75,862,921 | A | G | false | distal | 859 | rs11870142 | 0.002708 | 0.20769 | 167.69 | intergenic_variant | dELS_flank | ENSG00000132471 | 6,413 | ENSG00000132471 | 7,583 | 6,413 | ENSG00000132471 | dELS_flank | ENSG00000132471 | 6,413 | ENSG00000132471 | 7,583 | 6,413 | ENSG00000132471 | distal | NA | NA | |
17 | 75,863,105 | A | G | false | distal | 859 | rs55699990 | 0.002687 | 0.20768 | 167.68 | intergenic_variant | dELS_flank | ENSG00000132471 | 6,597 | ENSG00000132471 | 7,767 | 6,597 | ENSG00000132471 | dELS_flank | ENSG00000132471 | 6,597 | ENSG00000132471 | 7,767 | 6,597 | ENSG00000132471 | distal | NA | NA | |
17 | 75,863,279 | T | C | true | distal | 859 | rs55992471 | 1 | BW | 0.2077 | 167.66 | intergenic_variant | dELS_flank | ENSG00000132471 | 6,771 | ENSG00000132471 | 7,941 | 6,771 | ENSG00000132471 | dELS_flank | ENSG00000132471 | 6,771 | ENSG00000132471 | 7,941 | 6,771 | ENSG00000132471 | distal | NA | NA |
17 | 75,880,392 | G | A | false | 3_prime_UTR_variant | 914 | rs76154832 | 0.004052 | 0.14757 | 136 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141569 | 0 | ENSG00000267801 | 845 | 0 | ENSG00000141569 | 3_prime_UTR_variant | ENSG00000132481 | 1,810 | ENSG00000132481 | 2,178 | 1,810 | ENSG00000132481 | 3_prime_UTR_variant | NA | NA | |
17 | 75,888,957 | G | A | false | splicing | 922 | rs8066711 | 0.00196 | 0.23017 | 153.98 | intron_variant | dELS_flank | ENSG00000141569 | 5 | ENSG00000141569 | 895 | 5 | ENSG00000141569 | exon_proximal | ENSG00000141569 | 3,191 | ENSG00000141569 | 7,092 | 3,191 | ENSG00000141569 | splicing | NA | splicing:b1 | |
17 | 75,891,008 | C | T | false | missense_variant | 823 | rs61754864 | 0.004046 | 0.013904 | 26.347 | missense_variant | missense_variant | ENSG00000141569 | 0 | ENSG00000141569 | 0 | 0 | ENSG00000141569 | missense_variant | ENSG00000141569 | 1,140 | ENSG00000141569 | 5,041 | 1,140 | ENSG00000141569 | missense_variant | NA | NA | |
17 | 75,892,181 | G | A | false | missense_variant | 823 | rs150111787 | 0.004644 | 0.008005 | 11.916 | missense_variant | missense_variant | ENSG00000141569 | 0 | ENSG00000141569 | 0 | 0 | ENSG00000141569 | missense_variant | ENSG00000141569 | 31 | ENSG00000141569 | 3,868 | 31 | ENSG00000141569 | missense_variant | NA | NA | |
17 | 75,909,668 | C | G | false | 3_prime_UTR_variant | 913 | rs536134827 | 0.002026 | 0.01399 | 26.849 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000188878 | 0 | ENSG00000267426 | 0 | 0 | ENSG00000188878 | 3_prime_UTR_variant | ENSG00000188878 | 4,111 | ENSG00000267426 | 148 | 148 | ENSG00000267426 | 3_prime_UTR_variant | NA | NA | |
17 | 75,924,138 | C | T | true | tss_proximal | 926 | rs58587945 | 1 | BW | 0.12341 | 126.92 | intron_variant | dELS_flank | ENSG00000188878 | 496 | ENSG00000188878 | 496 | 496 | ENSG00000188878 | tss_proximal | ENSG00000188878 | 7,150 | ENSG00000188878 | 664 | 664 | ENSG00000188878 | tss_proximal | tss_prox:b2 | tss_prox:b1 |
17 | 75,926,860 | T | C | false | missense_variant | 825 | rs2305913 | 0.006711 | 0.34043 | 168.36 | missense_variant | missense_variant | ENSG00000188878 | 0 | ENSG00000188878 | 0 | 0 | ENSG00000188878 | missense_variant | ENSG00000188878 | 4,428 | ENSG00000267426 | 3,268 | 3,268 | ENSG00000267426 | missense_variant | NA | NA | |
17 | 75,953,459 | G | C | false | missense_variant | 825 | rs1135640 | 0.007744 | 0.34079 | 169.07 | missense_variant | missense_variant | ENSG00000161533 | 0 | ENSG00000161533 | 0 | 0 | ENSG00000161533 | missense_variant | ENSG00000161533 | 3,926 | ENSG00000161533 | 2,129 | 2,129 | ENSG00000161533 | missense_variant | NA | NA | |
17 | 76,142,754 | C | T | false | 3_prime_UTR_variant | 911 | rs117348350 | 0.000236 | 0.007115 | 29.702 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141576 | 0 | ENSG00000141576 | 0 | 0 | ENSG00000141576 | 3_prime_UTR_variant | ENSG00000129654 | 1,508 | ENSG00000267128 | 1,237 | 1,237 | ENSG00000267128 | 3_prime_UTR_variant | NA | NA | |
17 | 76,142,937 | C | G | false | 3_prime_UTR_variant | 911 | rs62090126 | 0.000264 | 0.00543 | 16.446 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141576 | 0 | ENSG00000141576 | 90 | 0 | ENSG00000141576 | 3_prime_UTR_variant | ENSG00000129654 | 1,691 | ENSG00000267128 | 1,420 | 1,420 | ENSG00000267128 | 3_prime_UTR_variant | NA | NA | |
17 | 76,144,764 | G | T | false | 3_prime_UTR_variant | 913 | rs77315634 | 0.002209 | 0.015117 | 14.042 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141576 | 0 | ENSG00000267128 | 0 | 0 | ENSG00000141576 | 3_prime_UTR_variant | ENSG00000129654 | 3,518 | ENSG00000141576 | 29 | 29 | ENSG00000141576 | 3_prime_UTR_variant | NA | NA | |
17 | 76,158,415 | G | A | false | missense_variant | 831 | rs61751845 | 0.000133 | 0.013907 | 13.467 | missense_variant | missense_variant | ENSG00000141576 | 0 | ENSG00000141576 | 0 | 0 | ENSG00000141576 | missense_variant | ENSG00000141576 | 2,158 | ENSG00000141576 | 107 | 107 | ENSG00000141576 | missense_variant | NA | NA | |
17 | 76,163,489 | C | T | false | 3_prime_UTR_variant | 916 | rs56280493 | 0.000714 | 0.036114 | 48.407 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141576 | 0 | ENSG00000141576 | 1,343 | 0 | ENSG00000141576 | 3_prime_UTR_variant | ENSG00000141576 | 3,592 | ENSG00000141576 | 1,343 | 1,343 | ENSG00000141576 | 3_prime_UTR_variant | NA | NA | |
17 | 76,167,678 | G | A | false | missense_variant | 830 | rs61744818 | 0.000173 | 0.031851 | 44.413 | missense_variant | missense_variant | ENSG00000141576 | 0 | ENSG00000141576 | 5,532 | 0 | ENSG00000141576 | missense_variant | ENSG00000141576 | 595 | ENSG00000141576 | 5,532 | 595 | ENSG00000141576 | missense_variant | NA | NA | |
17 | 76,308,099 | C | T | false | 5_prime_UTR_variant | 887 | rs189538460 | 0.000156 | 0.008465 | 53.646 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000129646 | 0 | ENSG00000129646 | 533 | 0 | ENSG00000129646 | 5_prime_UTR_variant | ENSG00000129646 | 100 | ENSG00000129646 | 533 | 100 | ENSG00000129646 | 5_prime_UTR_variant | NA | NA | |
17 | 76,310,445 | C | A | false | 3_prime_UTR_variant | 914 | rs6501884 | 0.002332 | 0.14575 | 89.955 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000161542 | 0 | ENSG00000161542 | 940 | 0 | ENSG00000161542 | 3_prime_UTR_variant | ENSG00000129646 | 2,168 | ENSG00000129646 | 2,879 | 2,168 | ENSG00000129646 | 3_prime_UTR_variant | NA | NA | |
17 | 76,310,749 | T | C | false | 3_prime_UTR_variant | 914 | rs421612 | 0.000833 | 0.15252 | 89.968 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000161542 | 0 | ENSG00000161542 | 636 | 0 | ENSG00000161542 | 3_prime_UTR_variant | ENSG00000129646 | 2,472 | ENSG00000161542 | 2,990 | 2,472 | ENSG00000129646 | 3_prime_UTR_variant | NA | NA | |
17 | 76,362,672 | A | T | true | distal | 860 | rs4789282 | 1 | BW | 0.18311 | 109.47 | intron_variant | dELS_flank | ENSG00000161542 | 7,742 | ENSG00000161542 | 9,043 | 7,742 | ENSG00000161542 | dELS_flank | ENSG00000161542 | 7,742 | ENSG00000161542 | 9,043 | 7,742 | ENSG00000161542 | distal | NA | NA |
17 | 76,385,486 | G | A | false | missense_variant | 817 | rs346803 | 0.004295 | 0.12602 | 116.82 | missense_variant | missense_variant | ENSG00000176170 | 0 | ENSG00000176170 | 0 | 0 | ENSG00000176170 | missense_variant | ENSG00000176170 | 193 | ENSG00000176170 | 536 | 193 | ENSG00000176170 | missense_variant | NA | NA | |
17 | 76,464,066 | T | C | false | distal | 847 | rs12939873 | 0.002397 | 0.34185 | 71.554 | intron_variant | dELS_flank | ENSG00000129673 | 1,585 | ENSG00000129673 | 3,651 | 1,585 | ENSG00000129673 | dELS_flank | ENSG00000129673 | 3,536 | ENSG00000129673 | 3,651 | 3,536 | ENSG00000129673 | distal | NA | NA | |
17 | 76,464,503 | T | C | false | distal | 847 | rs12941069 | 0.003553 | 0.34179 | 71.535 | intron_variant | dELS_flank | ENSG00000129673 | 1,379 | ENSG00000129673 | 3,214 | 1,379 | ENSG00000129673 | dELS_flank | ENSG00000129673 | 3,099 | ENSG00000129673 | 3,214 | 3,099 | ENSG00000129673 | distal | NA | NA | |
17 | 76,466,893 | C | T | false | tss_proximal | 900 | rs57197997 | 0.000511 | 0.043272 | 24.507 | intron_variant | pELS | ENSG00000129673 | 660 | ENSG00000129673 | 824 | 660 | ENSG00000129673 | tss_proximal | ENSG00000129673 | 709 | ENSG00000129673 | 824 | 709 | ENSG00000129673 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 76,473,918 | A | T | false | splicing | 909 | rs201325813 | 0.00006 | 0.00246 | 4.4616 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000129667 | 15 | ENSG00000129667 | 15 | 15 | ENSG00000129667 | splice_polypyrimidine_tract_variant | ENSG00000129667 | 842 | ENSG00000129667 | 3,812 | 842 | ENSG00000129667 | splicing | NA | splicing:b1 | |
17 | 76,501,225 | G | C | false | 5_prime_UTR_variant | 893 | rs143614105 | 0.000031 | 0.012432 | 15.273 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000129667 | 0 | ENSG00000129667 | 0 | 0 | ENSG00000129667 | 5_prime_UTR_variant | ENSG00000129667 | 145 | ENSG00000129667 | 134 | 134 | ENSG00000129667 | 5_prime_UTR_variant | NA | NA | |
17 | 76,556,862 | G | T | false | tss_proximal | 929 | rs34316510 | 0.000122 | 0.10184 | 53.787 | intron_variant | pELS | ENSG00000161544 | 5,686 | ENSG00000267546 | 309 | 309 | ENSG00000267546 | tss_proximal | ENSG00000161544 | 5,686 | ENSG00000267546 | 785 | 785 | ENSG00000267546 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
17 | 76,564,487 | G | A | false | 3_prime_UTR_variant | 918 | rs3180348 | 0.000138 | 0.1708 | 64.604 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000284526 | 0 | ENSG00000163597 | 0 | 0 | ENSG00000284526 | 3_prime_UTR_variant | ENSG00000284526 | 6,056 | ENSG00000278261 | 2,852 | 2,852 | ENSG00000278261 | 3_prime_UTR_variant | NA | NA | |
17 | 76,564,871 | G | A | false | 3_prime_UTR_variant | 918 | rs11181 | 0.000146 | 0.1661 | 59.965 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000284526 | 0 | ENSG00000163597 | 0 | 0 | ENSG00000284526 | 3_prime_UTR_variant | ENSG00000284526 | 5,672 | ENSG00000278261 | 3,236 | 3,236 | ENSG00000278261 | 3_prime_UTR_variant | NA | NA | |
17 | 76,598,042 | A | T | false | distal | 884 | rs4238998 | 0.000063 | 0.37097 | 157.9 | intron_variant | dELS | ENSG00000070731 | 12,181 | ENSG00000267084 | 2,269 | 2,269 | ENSG00000267084 | dELS | ENSG00000070731 | 12,181 | ENSG00000267084 | 2,269 | 2,269 | ENSG00000267084 | distal | NA | NA | |
17 | 76,623,045 | G | A | false | distal | 850 | rs4789331 | 0.000041 | 0.23376 | 138.11 | intron_variant | dELS_flank | ENSG00000070526 | 1,717 | ENSG00000070526 | 1,715 | 1,715 | ENSG00000070526 | dELS_flank | ENSG00000070526 | 4,121 | ENSG00000070526 | 3,345 | 3,345 | ENSG00000070526 | distal | NA | NA | |
17 | 76,654,526 | T | C | false | distal | 842 | rs8182300 | 0.000296 | 0.34363 | 189.39 | intron_variant | pELS | ENSG00000070526 | 10,768 | ENSG00000199735 | 1,793 | 1,793 | ENSG00000199735 | pELS | ENSG00000070526 | 10,768 | ENSG00000199735 | 1,793 | 1,793 | ENSG00000199735 | distal | NA | NA | |
17 | 76,655,154 | A | G | false | distal | 842 | rs9907915 | 0.000467 | 0.34224 | 189.48 | intron_variant | pELS | ENSG00000070526 | 11,396 | ENSG00000199735 | 1,165 | 1,165 | ENSG00000199735 | pELS | ENSG00000070526 | 11,396 | ENSG00000199735 | 1,165 | 1,165 | ENSG00000199735 | distal | NA | NA | |
17 | 76,721,304 | G | T | false | missense_variant | 836 | rs189310567 | 0.000066 | 0.002849 | 9.6258 | missense_variant | missense_variant | ENSG00000070495 | 0 | ENSG00000274051 | 0 | 0 | ENSG00000070495 | missense_variant | ENSG00000070495 | 5,198 | ENSG00000070495 | 77 | 77 | ENSG00000070495 | missense_variant | NA | NA | |
17 | 76,737,228 | C | T | false | 5_prime_UTR_variant | 893 | rs140374091 | 0.000028 | 0.01184 | 18.123 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000161547 | 0 | ENSG00000161547 | 0 | 0 | ENSG00000161547 | 5_prime_UTR_variant | ENSG00000161547 | 102 | ENSG00000161547 | 79 | 79 | ENSG00000161547 | 5_prime_UTR_variant | NA | NA | |
17 | 76,811,400 | C | A | false | distal | 921 | rs78121033 | 0.001148 | 0.085807 | 101.46 | intergenic_variant | CA_flank | ENSG00000092931 | 29,950 | ENSG00000267065 | 4,297 | 4,297 | ENSG00000267065 | CA_flank | ENSG00000092931 | 43,958 | ENSG00000267065 | 12,355 | 12,355 | ENSG00000267065 | distal | NA | NA | |
17 | 76,840,075 | A | G | false | distal | 841 | rs594033 | 0.000063 | 0.39267 | 145.47 | intron_variant | pELS | ENSG00000167889 | 28,328 | ENSG00000287836 | 515 | 515 | ENSG00000287836 | pELS | ENSG00000167889 | 28,328 | ENSG00000287836 | 1,023 | 1,023 | ENSG00000287836 | distal | NA | NA | |
17 | 76,882,177 | G | A | false | missense_variant | 813 | rs571264 | 0.000923 | 0.12913 | 111.27 | missense_variant | missense_variant | ENSG00000167889 | 0 | ENSG00000167889 | 0 | 0 | ENSG00000167889 | missense_variant | ENSG00000167889 | 9,529 | ENSG00000167889 | 9,465 | 9,465 | ENSG00000167889 | missense_variant | NA | NA | |
17 | 76,940,347 | T | C | false | distal | 853 | rs920851 | 0.000057 | 0.18371 | 56.605 | intron_variant | dELS_flank | ENSG00000167889 | 54 | ENSG00000167889 | 54 | 54 | ENSG00000167889 | dELS_flank | ENSG00000167889 | 67,699 | ENSG00000167889 | 3,600 | 3,600 | ENSG00000167889 | distal | NA | NA | |
17 | 77,126,426 | C | T | false | distal | 847 | rs551263 | 0.002334 | 0.34293 | 43.475 | intron_variant | dELS_flank | ENSG00000129657 | 1,446 | ENSG00000129657 | 3,667 | 1,446 | ENSG00000129657 | dELS_flank | ENSG00000129657 | 1,446 | ENSG00000129657 | 3,667 | 1,446 | ENSG00000129657 | distal | NA | NA | |
17 | 77,197,218 | C | G | false | distal | 870 | rs631730 | 0.001079 | 0.34295 | 81.374 | intron_variant | dELS | ENSG00000129657 | 906 | ENSG00000262870 | 1,731 | 906 | ENSG00000129657 | dELS | ENSG00000129657 | 3,796 | ENSG00000262870 | 2,324 | 2,324 | ENSG00000262870 | distal | NA | NA | |
17 | 77,320,798 | A | G | true | tss_proximal | 903 | rs1436138 | 0.999475 | DBP,MAP,eBMD | 0.35895 | 49.524 | intron_variant | pELS | ENSG00000184640 | 449 | ENSG00000184640 | 449 | 449 | ENSG00000184640 | tss_proximal | ENSG00000184640 | 484 | ENSG00000184640 | 573 | 484 | ENSG00000184640 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
17 | 77,323,393 | A | T | false | tss_proximal | 899 | rs184112980 | 0.000151 | 0.008957 | 9.7685 | intron_variant | pELS | ENSG00000184640 | 444 | ENSG00000184640 | 312 | 312 | ENSG00000184640 | tss_proximal | ENSG00000184640 | 782 | ENSG00000184640 | 312 | 312 | ENSG00000184640 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 77,339,266 | G | A | false | distal | 880 | rs55864301 | 0.000517 | 0.001895 | 10.497 | intron_variant | dELS | ENSG00000184640 | 16,317 | ENSG00000184640 | 15,454 | 15,454 | ENSG00000184640 | dELS | ENSG00000184640 | 16,655 | ENSG00000184640 | 15,559 | 15,559 | ENSG00000184640 | distal | NA | NA | |
17 | 77,373,391 | C | T | false | 5_prime_UTR_variant | 887 | rs148740327 | 0.000081 | 0.007576 | 6.7532 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000184640 | 0 | ENSG00000266998 | 425 | 0 | ENSG00000184640 | 5_prime_UTR_variant | ENSG00000184640 | 53 | ENSG00000184640 | 541 | 53 | ENSG00000184640 | 5_prime_UTR_variant | NA | NA | |
17 | 77,402,416 | C | T | true | missense_variant | 834 | rs34587622 | 0.98686 | GGT,eBMD | 0.1121 | 31.507 | missense_variant | missense_variant | ENSG00000184640 | 0 | ENSG00000184640 | 0 | 0 | ENSG00000184640 | missense_variant | ENSG00000184640 | 2,660 | ENSG00000184640 | 314 | 314 | ENSG00000184640 | missense_variant | NA | NA |
17 | 77,450,709 | C | G | false | 5_prime_UTR_variant | 889 | rs143934204 | 0.000175 | 0.0048 | 50.827 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000184640 | 0 | ENSG00000184640 | 52 | 0 | ENSG00000184640 | 5_prime_UTR_variant | ENSG00000184640 | 27 | ENSG00000184640 | 52 | 27 | ENSG00000184640 | 5_prime_UTR_variant | NA | NA | |
17 | 77,491,095 | A | G | false | non_coding_transcript_exon_variant | 864 | rs57517860 | 0.000668 | 0.005386 | 45.643 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000184640 | 235 | ENSG00000184640 | 0 | 0 | ENSG00000184640 | non_coding_transcript_exon_variant | ENSG00000184640 | 15,851 | ENSG00000184640 | 286 | 286 | ENSG00000184640 | non_coding_transcript_exon_variant | NA | NA | |
17 | 77,667,974 | G | A | false | distal | 856 | rs34839765 | 0.000037 | 0.07843 | 23.047 | intron_variant | dELS_flank | ENSG00000184640 | 167,377 | ENSG00000285535 | 785 | 785 | ENSG00000285535 | dELS_flank | ENSG00000184640 | 192,730 | ENSG00000267790 | 60,584 | 60,584 | ENSG00000267790 | distal | NA | NA | |
17 | 78,064,785 | C | G | false | missense_variant | 818 | rs34293811 | 0.00013 | 0.11062 | 130.64 | missense_variant | missense_variant | ENSG00000078687 | 0 | ENSG00000078687 | 0 | 0 | ENSG00000078687 | missense_variant | ENSG00000078687 | 15,871 | ENSG00000078687 | 108 | 108 | ENSG00000078687 | missense_variant | NA | NA | |
17 | 78,131,350 | G | C | true | 5_prime_UTR_variant | 892 | rs383603 | 0.91834 | MCV | 0.24443 | 24.731 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000167895 | 0 | ENSG00000141524 | 0 | 0 | ENSG00000167895 | 5_prime_UTR_variant | ENSG00000167895 | 561 | ENSG00000141524 | 46 | 46 | ENSG00000141524 | 5_prime_UTR_variant | NA | NA |
17 | 78,131,657 | G | A | false | synonymous_variant | 896 | rs35748721 | 0.00005 | 0.008073 | 10.876 | synonymous_variant | synonymous_variant | ENSG00000167895 | 0 | ENSG00000167895 | 0 | 0 | ENSG00000167895 | synonymous_variant | ENSG00000141524 | 749 | ENSG00000141524 | 259 | 259 | ENSG00000141524 | synonymous_variant | NA | NA | |
17 | 78,131,665 | T | C | false | missense_variant | 835 | rs145016347 | 0.000352 | 0.030814 | 31.529 | missense_variant | missense_variant | ENSG00000167895 | 0 | ENSG00000167895 | 0 | 0 | ENSG00000167895 | missense_variant | ENSG00000141524 | 741 | ENSG00000141524 | 267 | 267 | ENSG00000141524 | missense_variant | NA | NA | |
17 | 78,134,906 | G | T | true | missense_variant | 835 | rs112802399 | 1 | HbA1c | 0.033129 | 32.701 | missense_variant | missense_variant | ENSG00000167895 | 0 | ENSG00000167895 | 0 | 0 | ENSG00000167895 | missense_variant | ENSG00000141524 | 2,498 | ENSG00000167895 | 37 | 37 | ENSG00000167895 | missense_variant | NA | NA |
17 | 78,138,019 | G | A | false | missense_variant | 836 | rs151076155 | 0.000121 | 0.003311 | 6.7433 | missense_variant | missense_variant | ENSG00000167895 | 0 | ENSG00000167895 | 0 | 0 | ENSG00000167895 | missense_variant | ENSG00000141524 | 5,611 | ENSG00000167895 | 343 | 343 | ENSG00000167895 | missense_variant | NA | NA | |
17 | 78,138,386 | C | T | true | missense_variant | 836 | rs144120533 | 1 | HbA1c,MCV,RBC | 0.00315 | 6.7132 | missense_variant | missense_variant | ENSG00000167895 | 0 | ENSG00000167895 | 0 | 0 | ENSG00000167895 | missense_variant | ENSG00000141524 | 5,978 | ENSG00000167895 | 22 | 22 | ENSG00000167895 | missense_variant | NA | NA |
17 | 78,140,913 | C | T | false | missense_variant | 812 | rs139972217 | 0.000207 | 0.004025 | 7.2042 | missense_variant | missense_variant | ENSG00000167895 | 0 | ENSG00000167895 | 0 | 0 | ENSG00000167895 | missense_variant | ENSG00000187997 | 5,471 | ENSG00000167895 | 2,549 | 2,549 | ENSG00000167895 | missense_variant | NA | NA | |
17 | 78,160,963 | C | T | false | missense_variant | 832 | rs72898209 | 0.000084 | 0.010441 | 15.54 | missense_variant | missense_variant | ENSG00000187997 | 0 | ENSG00000187997 | 0 | 0 | ENSG00000187997 | missense_variant | ENSG00000187997 | 76 | ENSG00000187997 | 898 | 76 | ENSG00000187997 | missense_variant | NA | NA | |
17 | 78,169,161 | G | A | false | 5_prime_UTR_variant | 887 | rs572500223 | 0.000104 | 0.007332 | 13.792 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000108639 | 0 | ENSG00000108639 | 445 | 0 | ENSG00000108639 | 5_prime_UTR_variant | ENSG00000108639 | 2 | ENSG00000108639 | 522 | 2 | ENSG00000108639 | 5_prime_UTR_variant | NA | NA | |
17 | 78,187,152 | C | T | true | 5_prime_UTR_variant | 893 | rs144204502 | 0.999495 | MCH,MCV | 0.012468 | 30.673 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000167900 | 0 | ENSG00000167900 | 130 | 0 | ENSG00000167900 | 5_prime_UTR_variant | ENSG00000167900 | 80 | ENSG00000167900 | 130 | 80 | ENSG00000167900 | 5_prime_UTR_variant | NA | NA |
17 | 78,234,103 | C | T | false | missense_variant | 815 | rs78780583 | 0.000966 | 0.10279 | 33.875 | missense_variant | missense_variant | ENSG00000204278 | 0 | ENSG00000089685 | 10,246 | 0 | ENSG00000204278 | missense_variant | ENSG00000204278 | 2,078 | ENSG00000283914 | 14,089 | 2,078 | ENSG00000204278 | missense_variant | NA | NA | |
17 | 78,234,612 | T | G | false | missense_variant | 815 | rs79885699 | 0.000077 | 0.13249 | 69.366 | missense_variant | missense_variant | ENSG00000204278 | 0 | ENSG00000089685 | 10,755 | 0 | ENSG00000204278 | missense_variant | ENSG00000204278 | 2,587 | ENSG00000283914 | 13,580 | 2,587 | ENSG00000204278 | missense_variant | NA | NA | |
17 | 78,252,934 | A | G | false | distal | 842 | rs72909025 | 0.001573 | 0.33708 | 69.652 | intron_variant | pELS | ENSG00000204278 | 11,946 | ENSG00000267676 | 734 | 734 | ENSG00000267676 | pELS | ENSG00000204278 | 20,909 | ENSG00000267676 | 1,481 | 1,481 | ENSG00000267676 | distal | NA | NA | |
17 | 78,275,000 | G | A | false | distal | 862 | rs7214289 | 0.000231 | 0.47677 | 39.373 | intron_variant | dELS_flank | ENSG00000204278 | 34,012 | ENSG00000204277 | 3,032 | 3,032 | ENSG00000204277 | dELS_flank | ENSG00000204278 | 42,975 | ENSG00000204277 | 3,491 | 3,491 | ENSG00000204277 | distal | NA | NA | |
17 | 78,346,801 | A | C | true | distal | 884 | rs57933884 | 0.999175 | CRP | 0.3732 | 26.994 | intron_variant | dELS | ENSG00000184557 | 9,976 | ENSG00000267737 | 555 | 555 | ENSG00000267737 | dELS | ENSG00000184557 | 13,272 | ENSG00000267737 | 4,063 | 4,063 | ENSG00000267737 | distal | NA | NA |
17 | 78,349,028 | A | C | true | distal | 861 | rs11658269 | 1 | CRP | 0.14024 | 22.449 | intergenic_variant | dELS_flank | ENSG00000184557 | 7,749 | ENSG00000267737 | 1,229 | 1,229 | ENSG00000267737 | dELS_flank | ENSG00000184557 | 11,045 | ENSG00000267737 | 6,290 | 6,290 | ENSG00000267737 | distal | NA | NA |
17 | 78,358,045 | C | T | true | 3_prime_UTR_variant | 917 | rs41522945 | 0.99522 | CRP | 0.063064 | 12.388 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000184557 | 0 | ENSG00000266970 | 2,330 | 0 | ENSG00000184557 | 3_prime_UTR_variant | ENSG00000184557 | 2,028 | ENSG00000266970 | 2,330 | 2,028 | ENSG00000184557 | 3_prime_UTR_variant | NA | NA |
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