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 | 45,996,373 | G | A | false | splicing | 922 | rs62063850 | 0.000542 | 0.22586 | 3,788.5 | intron_variant | dELS_flank | ENSG00000186868 | 25 | ENSG00000186868 | 25 | 25 | ENSG00000186868 | exon_proximal | ENSG00000256762 | 2,876 | ENSG00000186868 | 10,713 | 2,876 | ENSG00000256762 | splicing | NA | splicing:b1 | |
17 | 46,171,482 | G | A | false | missense_variant | 837 | 17:44248848:G:A | 0.003325 | 0.18114 | 378.04 | missense_variant | missense_variant | ENSG00000120071 | 0 | ENSG00000120071 | 0 | 0 | ENSG00000120071 | missense_variant | ENSG00000120071 | 65 | ENSG00000120071 | 258 | 65 | ENSG00000120071 | missense_variant | NA | NA | |
17 | 46,171,730 | A | C | false | synonymous_variant | 895 | rs17662889 | 0.000743 | 0.19102 | 3,333.4 | synonymous_variant | synonymous_variant | ENSG00000120071 | 0 | ENSG00000120071 | 0 | 0 | ENSG00000120071 | synonymous_variant | ENSG00000120071 | 313 | ENSG00000120071 | 506 | 313 | ENSG00000120071 | synonymous_variant | NA | NA | |
17 | 46,285,770 | G | C | false | 3_prime_UTR_variant | 915 | rs62073169 | 0.002018 | 0.34616 | 637.36 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000228696 | 0 | ENSG00000289729 | 146 | 0 | ENSG00000228696 | 3_prime_UTR_variant | ENSG00000176681 | 6,962 | ENSG00000289729 | 1,195 | 1,195 | ENSG00000289729 | 3_prime_UTR_variant | NA | NA | |
17 | 46,829,583 | T | C | true | distal | 850 | rs8069437 | 0.96268 | MAP,RBC | 0.23254 | 292.85 | intron_variant | dELS_flank | ENSG00000158955 | 3,617 | ENSG00000108379 | 1,011 | 1,011 | ENSG00000108379 | dELS_flank | ENSG00000158955 | 3,617 | ENSG00000108379 | 3,449 | 3,449 | ENSG00000108379 | distal | NA | NA |
17 | 46,935,905 | T | C | true | 3_prime_UTR_variant | 914 | rs17608766 | 0.99507 | PP,SBP | 0.14725 | 206.58 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000108433 | 0 | ENSG00000108433 | 370 | 0 | ENSG00000108433 | 3_prime_UTR_variant | ENSG00000108433 | 3,722 | ENSG00000108433 | 2,699 | 2,699 | ENSG00000108433 | 3_prime_UTR_variant | NA | NA |
17 | 46,978,935 | G | T | false | missense_variant | 834 | rs79497126 | 0.002434 | 0.10704 | 134.5 | missense_variant | missense_variant | ENSG00000179673 | 0 | ENSG00000263142 | 163 | 0 | ENSG00000179673 | missense_variant | ENSG00000179673 | 317 | ENSG00000263142 | 453 | 317 | ENSG00000179673 | missense_variant | NA | NA | |
17 | 47,189,066 | C | G | false | tss_proximal | 869 | rs11079761 | 0.001594 | 0.073779 | 108.78 | intron_variant | PLS | ENSG00000004897 | 79 | ENSG00000004897 | 79 | 79 | ENSG00000004897 | tss_proximal | ENSG00000004897 | 109 | ENSG00000004897 | 129 | 109 | ENSG00000004897 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 47,291,140 | C | T | false | missense_variant | 819 | rs375746929 | 0.000187 | 0.000193 | 1.6182 | missense_variant | missense_variant | ENSG00000259207 | 0 | ENSG00000259207 | 0 | 0 | ENSG00000259207 | missense_variant | ENSG00000178852 | 32,149 | ENSG00000259207 | 86 | 86 | ENSG00000259207 | missense_variant | NA | NA | |
17 | 47,291,156 | T | G | false | missense_variant | 819 | rs116362814 | 0.000097 | 0.000035 | 113.57 | missense_variant | missense_variant | ENSG00000259207 | 0 | ENSG00000259207 | 0 | 0 | ENSG00000259207 | missense_variant | ENSG00000178852 | 32,133 | ENSG00000259207 | 102 | 102 | ENSG00000259207 | missense_variant | NA | NA | |
17 | 47,506,318 | A | T | false | distal | 907 | rs142855540 | 0.000161 | 0.015858 | 146.45 | intergenic_variant | intergenic_variant | ENSG00000141279 | 16,623 | ENSG00000228782 | 13,824 | 13,824 | ENSG00000228782 | intergenic_variant | ENSG00000141279 | 16,623 | ENSG00000228782 | 13,824 | 13,824 | ENSG00000228782 | distal | NA | NA | |
17 | 47,538,966 | T | C | false | distal | 875 | rs4497739 | 0.001899 | 0.429 | 423.94 | intron_variant | dELS | ENSG00000141279 | 6,942 | ENSG00000141279 | 6,942 | 6,942 | ENSG00000141279 | dELS | ENSG00000141279 | 7,696 | ENSG00000141279 | 7,577 | 7,577 | ENSG00000141279 | distal | NA | NA | |
17 | 47,717,340 | A | G | true | distal | 851 | rs1808192 | 0.9467 | TP | 0.33134 | 272.28 | intergenic_variant | dELS_flank | ENSG00000198933 | 5,287 | ENSG00000073861 | 16,084 | 5,287 | ENSG00000198933 | dELS_flank | ENSG00000073861 | 15,895 | ENSG00000073861 | 16,084 | 15,895 | ENSG00000073861 | distal | NA | NA |
17 | 47,733,988 | C | G | true | tss_proximal | 869 | rs41444548 | 0.999965 | AG,NAP,TP | 0.075944 | 135.85 | intron_variant | pELS | ENSG00000073861 | 42 | ENSG00000073861 | 42 | 42 | ENSG00000073861 | tss_proximal | ENSG00000073861 | 751 | ENSG00000073861 | 562 | 562 | ENSG00000073861 | tss_proximal | tss_prox:b1 | tss_prox:b0 |
17 | 47,834,936 | C | T | false | 3_prime_UTR_variant | 918 | rs11079797 | 0.001694 | 0.15875 | 149.71 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141294 | 402 | ENSG00000141294 | 0 | 0 | ENSG00000141294 | 3_prime_UTR_variant | ENSG00000141294 | 3,265 | ENSG00000141294 | 2,764 | 2,764 | ENSG00000141294 | 3_prime_UTR_variant | NA | NA | |
17 | 47,837,037 | G | A | false | missense_variant | 838 | rs145648581 | 0.00019 | 0.010861 | 21.574 | missense_variant | missense_variant | ENSG00000141294 | 0 | ENSG00000141294 | 0 | 0 | ENSG00000141294 | missense_variant | ENSG00000141295 | 2,557 | ENSG00000141295 | 2,909 | 2,557 | ENSG00000141295 | missense_variant | NA | NA | |
17 | 47,840,230 | A | G | false | missense_variant | 814 | rs111736975 | 0.000104 | 0.003013 | 32.429 | missense_variant | missense_variant | ENSG00000141295 | 0 | ENSG00000141295 | 0 | 0 | ENSG00000141295 | missense_variant | ENSG00000141295 | 634 | ENSG00000141295 | 282 | 282 | ENSG00000141295 | missense_variant | NA | NA | |
17 | 47,857,398 | A | G | false | distal | 844 | rs144522617 | 0.00545 | 0.006543 | 16.262 | intergenic_variant | pELS_flank | ENSG00000189120 | 1,523 | ENSG00000264243 | 5,943 | 1,523 | ENSG00000189120 | pELS_flank | ENSG00000189120 | 1,523 | ENSG00000264243 | 5,943 | 1,523 | ENSG00000189120 | distal | NA | NA | |
17 | 47,883,499 | T | C | false | distal | 842 | rs11654010 | 0.006894 | 0.34459 | 285.42 | intergenic_variant | pELS | ENSG00000167182 | 12,650 | ENSG00000266821 | 1,100 | 1,100 | ENSG00000266821 | pELS | ENSG00000167182 | 12,650 | ENSG00000266821 | 1,100 | 1,100 | ENSG00000266821 | distal | NA | NA | |
17 | 47,971,226 | A | G | false | missense_variant | 811 | rs2905846 | 0.001004 | 0.2634 | 293.5 | missense_variant | missense_variant | ENSG00000108465 | 0 | ENSG00000108465 | 0 | 0 | ENSG00000108465 | missense_variant | ENSG00000108465 | 74 | ENSG00000108465 | 14 | 14 | ENSG00000108465 | missense_variant | NA | NA | |
17 | 48,039,777 | A | G | false | distal | 905 | rs150324254 | 0.00008 | 0.009799 | 61.439 | intergenic_variant | intergenic_variant | ENSG00000005243 | 1,746 | ENSG00000005243 | 2,003 | 1,746 | ENSG00000005243 | intergenic_variant | ENSG00000005243 | 1,746 | ENSG00000005243 | 2,003 | 1,746 | ENSG00000005243 | distal | NA | NA | |
17 | 48,061,847 | T | G | false | distal | 843 | rs8182234 | 0.00085 | 0.1839 | 240.14 | downstream_gene_variant | pELS_flank | ENSG00000082641 | 301 | ENSG00000266341 | 1,177 | 301 | ENSG00000082641 | pELS_flank | ENSG00000082641 | 2,969 | ENSG00000266341 | 1,177 | 1,177 | ENSG00000266341 | distal | NA | NA | |
17 | 48,062,117 | C | T | false | distal | 839 | rs72825504 | 0.005619 | 0.21244 | 282.12 | downstream_gene_variant | pELS | ENSG00000082641 | 571 | ENSG00000266341 | 1,447 | 571 | ENSG00000082641 | pELS | ENSG00000082641 | 3,239 | ENSG00000266341 | 1,447 | 1,447 | ENSG00000266341 | distal | NA | NA | |
17 | 48,211,287 | A | T | true | distal | 928 | rs56161855 | 0.96574 | BW | 0.1322 | 240.34 | intron_variant | CA-CTCF_flank | ENSG00000141293 | 21,786 | ENSG00000263787 | 6,757 | 6,757 | ENSG00000263787 | CA-CTCF_flank | ENSG00000141293 | 26,107 | ENSG00000207306 | 14,500 | 14,500 | ENSG00000207306 | distal | NA | NA |
17 | 48,413,527 | T | A | true | distal | 852 | rs192894638 | 0.947735 | FEV1FVC | 0.28417 | 267.29 | intron_variant | dELS_flank | ENSG00000141293 | 16,547 | ENSG00000141293 | 16,547 | 16,547 | ENSG00000141293 | dELS_flank | ENSG00000141293 | 16,686 | ENSG00000141293 | 16,747 | 16,686 | ENSG00000141293 | distal | NA | NA |
17 | 48,428,334 | A | G | false | distal | 839 | rs7211712 | 0.002191 | 0.21538 | 401.55 | intron_variant | pELS | ENSG00000141293 | 1,740 | ENSG00000141293 | 1,740 | 1,740 | ENSG00000141293 | pELS | ENSG00000141293 | 1,879 | ENSG00000141293 | 1,940 | 1,879 | ENSG00000141293 | distal | NA | NA | |
17 | 48,450,876 | T | G | false | distal | 858 | rs35387091 | 0.003001 | 0.21758 | 397.21 | intergenic_variant | dELS_flank | ENSG00000141293 | 20,656 | ENSG00000264451 | 9,493 | 9,493 | ENSG00000264451 | dELS_flank | ENSG00000141293 | 20,656 | ENSG00000264451 | 9,493 | 9,493 | ENSG00000264451 | distal | NA | NA | |
17 | 48,451,013 | T | C | false | distal | 858 | rs35767434 | 0.002942 | 0.21758 | 397.21 | intergenic_variant | dELS_flank | ENSG00000141293 | 20,793 | ENSG00000264451 | 9,356 | 9,356 | ENSG00000264451 | dELS_flank | ENSG00000141293 | 20,793 | ENSG00000264451 | 9,356 | 9,356 | ENSG00000264451 | distal | NA | NA | |
17 | 48,451,167 | A | G | false | distal | 858 | rs34771639 | 0.002947 | 0.21758 | 397.21 | intergenic_variant | dELS_flank | ENSG00000141293 | 20,947 | ENSG00000264451 | 9,202 | 9,202 | ENSG00000264451 | dELS_flank | ENSG00000141293 | 20,947 | ENSG00000264451 | 9,202 | 9,202 | ENSG00000264451 | distal | NA | NA | |
17 | 48,463,165 | G | A | false | distal | 881 | rs182892683 | 0.000078 | 0.0012 | 14.338 | intron_variant | dELS | ENSG00000141293 | 32,945 | ENSG00000264451 | 2,281 | 2,281 | ENSG00000264451 | dELS | ENSG00000141293 | 32,945 | ENSG00000264451 | 2,794 | 2,794 | ENSG00000264451 | distal | NA | NA | |
17 | 48,524,678 | A | G | false | distal | 857 | rs541515282 | 0.000911 | 0.004284 | 22.861 | intergenic_variant | dELS_flank | ENSG00000120094 | 3,847 | ENSG00000173917 | 16,215 | 3,847 | ENSG00000120094 | dELS_flank | ENSG00000120094 | 6,231 | ENSG00000173917 | 18,467 | 6,231 | ENSG00000120094 | distal | NA | NA | |
17 | 48,524,759 | A | T | false | distal | 857 | rs56322138 | 0.000222 | 0.009198 | 26.314 | intergenic_variant | dELS_flank | ENSG00000120094 | 3,766 | ENSG00000173917 | 16,134 | 3,766 | ENSG00000120094 | dELS_flank | ENSG00000120094 | 6,150 | ENSG00000173917 | 18,386 | 6,150 | ENSG00000120094 | distal | NA | NA | |
17 | 48,524,916 | G | A | false | distal | 857 | rs35304128 | 0.000007 | 0.000039 | 3.3747 | intergenic_variant | dELS_flank | ENSG00000120094 | 3,609 | ENSG00000173917 | 15,977 | 3,609 | ENSG00000120094 | dELS_flank | ENSG00000120094 | 5,993 | ENSG00000173917 | 18,229 | 5,993 | ENSG00000120094 | distal | NA | NA | |
17 | 48,543,363 | T | A | false | missense_variant | 831 | rs183316427 | 0.000126 | 0.013347 | 23.412 | missense_variant | missense_variant | ENSG00000173917 | 0 | ENSG00000173917 | 0 | 0 | ENSG00000173917 | missense_variant | ENSG00000173917 | 1,745 | ENSG00000230148 | 187 | 187 | ENSG00000230148 | missense_variant | NA | NA | |
17 | 48,552,231 | G | T | false | missense_variant | 826 | rs2229304 | 0.002715 | 0.29847 | 267.13 | missense_variant | missense_variant | ENSG00000120093 | 0 | ENSG00000230148 | 980 | 0 | ENSG00000120093 | missense_variant | ENSG00000120093 | 1,690 | ENSG00000233101 | 2,600 | 1,690 | ENSG00000120093 | missense_variant | NA | NA | |
17 | 48,592,068 | C | T | true | 3_prime_UTR_variant | 915 | rs9299 | 0.97357 | BMI | 0.34219 | 218.01 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000120075 | 0 | ENSG00000233101 | 223 | 0 | ENSG00000120075 | 3_prime_UTR_variant | ENSG00000120075 | 1,710 | ENSG00000233101 | 223 | 223 | ENSG00000233101 | 3_prime_UTR_variant | NA | NA |
17 | 48,637,669 | C | G | false | distal | 840 | rs877507 | 0.000166 | 0.021035 | 38.756 | intron_variant | pELS | ENSG00000170689 | 11,310 | ENSG00000272763 | 675 | 675 | ENSG00000272763 | pELS | ENSG00000170689 | 11,310 | ENSG00000272763 | 1,440 | 1,440 | ENSG00000272763 | distal | NA | NA | |
17 | 48,934,535 | C | T | false | missense_variant | 824 | rs57901004 | 0.008565 | 0.47026 | 297.74 | missense_variant | missense_variant | ENSG00000159210 | 1,188 | ENSG00000159210 | 0 | 0 | ENSG00000159210 | missense_variant | ENSG00000159210 | 10,274 | ENSG00000159210 | 943 | 943 | ENSG00000159210 | missense_variant | NA | NA | |
17 | 48,963,251 | G | A | false | distal | 854 | rs1973407 | 0.001697 | 0.27319 | 258.92 | intron_variant | dELS_flank | ENSG00000159224 | 1,058 | ENSG00000238804 | 6,497 | 1,058 | ENSG00000159224 | dELS_flank | ENSG00000159224 | 5,344 | ENSG00000238804 | 6,497 | 5,344 | ENSG00000159224 | distal | NA | NA | |
17 | 49,229,006 | C | T | false | tss_proximal | 868 | rs34692121 | 0.000711 | 0.024342 | 43.031 | intron_variant | pELS_flank | ENSG00000173868 | 67 | ENSG00000177369 | 1,846 | 67 | ENSG00000173868 | tss_proximal | ENSG00000173868 | 135 | ENSG00000177369 | 1,846 | 135 | ENSG00000173868 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 49,370,013 | T | C | true | tss_proximal | 929 | rs17637241 | 0.99994 | SHBG,Testosterone_M | 0.10456 | 73.977 | upstream_gene_variant | pELS | ENSG00000198740 | 7,539 | ENSG00000248714 | 14 | 14 | ENSG00000248714 | tss_proximal | ENSG00000198740 | 7,539 | ENSG00000262039 | 726 | 726 | ENSG00000262039 | tss_proximal | tss_prox:b2 | tss_prox:b2 |
17 | 49,486,488 | C | T | false | distal | 879 | rs376409326 | 0.000011 | 0.000971 | 2.5476 | intergenic_variant | dELS | ENSG00000064300 | 8,804 | ENSG00000279036 | 7,734 | 7,734 | ENSG00000279036 | dELS | ENSG00000064300 | 8,804 | ENSG00000279036 | 11,311 | 8,804 | ENSG00000064300 | distal | NA | NA | |
17 | 49,486,980 | C | A | true | distal | 879 | rs528027135 | 0.99997 | MCH | 0.001466 | 10.675 | intergenic_variant | dELS | ENSG00000064300 | 8,312 | ENSG00000279036 | 7,242 | 7,242 | ENSG00000279036 | dELS | ENSG00000064300 | 8,312 | ENSG00000279036 | 10,819 | 8,312 | ENSG00000064300 | distal | NA | NA |
17 | 49,487,048 | C | T | false | distal | 879 | rs577494486 | 0.000014 | 0.000758 | 5.0741 | intergenic_variant | dELS | ENSG00000064300 | 8,244 | ENSG00000279036 | 7,174 | 7,174 | ENSG00000279036 | dELS | ENSG00000064300 | 8,244 | ENSG00000279036 | 10,751 | 8,244 | ENSG00000064300 | distal | NA | NA | |
17 | 49,487,071 | G | A | false | distal | 879 | rs111601393 | 0.000011 | 0.000209 | 9.812 | intergenic_variant | dELS | ENSG00000064300 | 8,221 | ENSG00000279036 | 7,151 | 7,151 | ENSG00000279036 | dELS | ENSG00000064300 | 8,221 | ENSG00000279036 | 10,728 | 8,221 | ENSG00000064300 | distal | NA | NA | |
17 | 49,487,100 | C | G | false | distal | 879 | rs553568756 | 0.00008 | 0.001694 | 5.5256 | intergenic_variant | dELS | ENSG00000064300 | 8,192 | ENSG00000279036 | 7,122 | 7,122 | ENSG00000279036 | dELS | ENSG00000064300 | 8,192 | ENSG00000279036 | 10,699 | 8,192 | ENSG00000064300 | distal | NA | NA | |
17 | 49,487,473 | T | C | false | distal | 879 | rs538686752 | 0.000013 | 0.000683 | 4.2076 | intergenic_variant | dELS | ENSG00000064300 | 7,819 | ENSG00000279036 | 6,749 | 6,749 | ENSG00000279036 | dELS | ENSG00000064300 | 7,819 | ENSG00000279036 | 10,326 | 7,819 | ENSG00000064300 | distal | NA | NA | |
17 | 49,507,367 | A | C | false | distal | 884 | rs613495 | 0.003383 | 0.37561 | 42.324 | intron_variant | dELS | ENSG00000064300 | 708 | ENSG00000249906 | 866 | 708 | ENSG00000064300 | dELS | ENSG00000064300 | 9,975 | ENSG00000277478 | 3,449 | 3,449 | ENSG00000277478 | distal | NA | NA | |
17 | 49,864,016 | T | G | false | distal | 880 | rs78633990 | 0.000012 | 0.000052 | 27.292 | intergenic_variant | dELS | ENSG00000176358 | 15,946 | ENSG00000204584 | 15,178 | 15,178 | ENSG00000204584 | dELS | ENSG00000176358 | 15,946 | ENSG00000176358 | 15,998 | 15,946 | ENSG00000176358 | distal | NA | NA | |
17 | 49,864,045 | T | C | false | distal | 880 | rs538018238 | 0.000496 | 0.002787 | 7.6283 | intergenic_variant | dELS | ENSG00000176358 | 15,975 | ENSG00000204584 | 15,207 | 15,207 | ENSG00000204584 | dELS | ENSG00000176358 | 15,975 | ENSG00000176358 | 16,027 | 15,975 | ENSG00000176358 | distal | NA | NA | |
17 | 49,864,062 | A | T | false | distal | 880 | rs115690860 | 0.000008 | 0.000046 | 33.651 | intergenic_variant | dELS | ENSG00000176358 | 15,992 | ENSG00000204584 | 15,224 | 15,224 | ENSG00000204584 | dELS | ENSG00000176358 | 15,992 | ENSG00000176358 | 16,044 | 15,992 | ENSG00000176358 | distal | NA | NA | |
17 | 49,864,068 | C | T | false | distal | 880 | rs76083295 | 0.000008 | 0.000023 | 22.856 | intergenic_variant | dELS | ENSG00000176358 | 15,998 | ENSG00000204584 | 15,230 | 15,230 | ENSG00000204584 | dELS | ENSG00000176358 | 15,998 | ENSG00000176358 | 16,050 | 15,998 | ENSG00000176358 | distal | NA | NA | |
17 | 49,864,094 | C | T | true | distal | 880 | rs568948954 | 0.99999 | ALP | 0.001113 | 4.4419 | intergenic_variant | dELS | ENSG00000176358 | 16,024 | ENSG00000204584 | 15,256 | 15,256 | ENSG00000204584 | dELS | ENSG00000176358 | 16,024 | ENSG00000176358 | 16,076 | 16,024 | ENSG00000176358 | distal | NA | NA |
17 | 49,936,711 | T | C | true | distal | 881 | rs544307728 | 0.998855 | MCV | 0.001593 | 4.3891 | intergenic_variant | dELS | ENSG00000108813 | 32,478 | ENSG00000249176 | 2,410 | 2,410 | ENSG00000249176 | dELS | ENSG00000108813 | 32,478 | ENSG00000249176 | 2,410 | 2,410 | ENSG00000249176 | distal | NA | NA |
17 | 50,076,560 | T | C | false | tss_proximal | 930 | rs2301627 | 0.001942 | 0.11215 | 73.172 | intron_variant | dELS_flank | ENSG00000005884 | 23 | ENSG00000005884 | 23 | 23 | ENSG00000005884 | tss_proximal | ENSG00000005884 | 64 | ENSG00000005884 | 839 | 64 | ENSG00000005884 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 50,110,182 | G | C | false | 3_prime_UTR_variant | 914 | rs61328000 | 0.000362 | 0.15034 | 38.77 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000005882 | 0 | ENSG00000005882 | 0 | 0 | ENSG00000005882 | 3_prime_UTR_variant | ENSG00000005882 | 5,857 | ENSG00000005882 | 2,173 | 2,173 | ENSG00000005882 | 3_prime_UTR_variant | NA | NA | |
17 | 50,149,928 | G | A | false | synonymous_variant | 894 | rs111354487 | 0.006927 | 0.039955 | 10.44 | synonymous_variant | synonymous_variant | ENSG00000108819 | 0 | ENSG00000236472 | 3,751 | 0 | ENSG00000108819 | synonymous_variant | ENSG00000108819 | 748 | ENSG00000108819 | 4,775 | 748 | ENSG00000108819 | synonymous_variant | NA | NA | |
17 | 50,166,375 | G | A | false | tss_proximal | 903 | rs2412299 | 0.002734 | 0.36139 | 39.012 | intron_variant | pELS | ENSG00000108823 | 297 | ENSG00000108823 | 238 | 238 | ENSG00000108823 | tss_proximal | ENSG00000108823 | 333 | ENSG00000108823 | 333 | 333 | ENSG00000108823 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 50,186,542 | A | G | false | tss_proximal | 931 | rs2277632 | 0.001035 | 0.14008 | 28.315 | intron_variant | dELS_flank | ENSG00000108821 | 34 | ENSG00000108821 | 34 | 34 | ENSG00000108821 | tss_proximal | ENSG00000108821 | 13,648 | ENSG00000108821 | 579 | 579 | ENSG00000108821 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 50,199,194 | G | A | false | tss_proximal | 867 | rs73987449 | 0.000084 | 0.0251 | 14.159 | intron_variant | dELS_flank | ENSG00000108821 | 31 | ENSG00000108821 | 83 | 31 | ENSG00000108821 | tss_proximal | ENSG00000108821 | 996 | ENSG00000108821 | 491 | 491 | ENSG00000108821 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 50,200,388 | C | A | false | tss_proximal | 902 | rs1800012 | 0.002508 | 0.18584 | 22.702 | intron_variant | pELS | ENSG00000108821 | 196 | ENSG00000108821 | 440 | 196 | ENSG00000108821 | tss_proximal | ENSG00000108821 | 196 | ENSG00000249406 | 511 | 196 | ENSG00000108821 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 50,201,570 | C | T | false | 5_prime_UTR_variant | 889 | rs2734278 | 0.000194 | 0.004646 | 11.755 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000108821 | 0 | ENSG00000108821 | 0 | 0 | ENSG00000108821 | 5_prime_UTR_variant | ENSG00000108821 | 60 | ENSG00000108821 | 61 | 60 | ENSG00000108821 | 5_prime_UTR_variant | NA | NA | |
17 | 50,211,035 | G | A | false | distal | 884 | rs2246839 | 0.000186 | 0.38106 | 34.29 | intron_variant | dELS | ENSG00000108821 | 9,403 | ENSG00000249406 | 232 | 232 | ENSG00000249406 | dELS | ENSG00000108821 | 9,403 | ENSG00000249406 | 2,062 | 2,062 | ENSG00000249406 | distal | NA | NA | |
17 | 50,225,230 | G | T | false | distal | 921 | rs2696306 | 0.000501 | 0.08965 | 34.388 | intergenic_variant | CA_flank | ENSG00000108821 | 23,598 | ENSG00000249406 | 9,307 | 9,307 | ENSG00000249406 | CA_flank | ENSG00000108821 | 23,598 | ENSG00000263176 | 9,872 | 9,872 | ENSG00000263176 | distal | NA | NA | |
17 | 50,238,795 | A | G | false | distal | 881 | rs74726250 | 0.000012 | 0.000614 | 31.999 | intergenic_variant | dELS | ENSG00000167105 | 32,610 | ENSG00000249838 | 2,665 | 2,665 | ENSG00000249838 | dELS | ENSG00000167105 | 32,610 | ENSG00000249838 | 2,949 | 2,949 | ENSG00000249838 | distal | NA | NA | |
17 | 50,289,343 | A | G | false | distal | 842 | rs2412302 | 0.000308 | 0.32879 | 30.707 | intergenic_variant | pELS | ENSG00000167105 | 7,857 | ENSG00000251179 | 1,487 | 1,487 | ENSG00000251179 | pELS | ENSG00000167105 | 14,876 | ENSG00000251179 | 1,487 | 1,487 | ENSG00000251179 | distal | NA | NA | |
17 | 50,345,097 | G | A | false | distal | 839 | rs76924269 | 0.000129 | 0.21162 | 108.88 | intergenic_variant | pELS | ENSG00000015532 | 1,028 | ENSG00000015532 | 1,038 | 1,028 | ENSG00000015532 | pELS | ENSG00000015532 | 1,028 | ENSG00000015532 | 1,038 | 1,028 | ENSG00000015532 | distal | NA | NA | |
17 | 50,353,853 | G | A | false | missense_variant | 812 | rs145954495 | 0.000202 | 0.006546 | 9.5342 | missense_variant | missense_variant | ENSG00000015532 | 0 | ENSG00000015532 | 0 | 0 | ENSG00000015532 | missense_variant | ENSG00000015532 | 3,312 | ENSG00000015532 | 2,330 | 2,330 | ENSG00000015532 | missense_variant | NA | NA | |
17 | 50,354,963 | G | C | false | missense_variant | 828 | rs12451299 | 0.005029 | 0.24348 | 127.56 | missense_variant | missense_variant | ENSG00000015532 | 0 | ENSG00000015532 | 0 | 0 | ENSG00000015532 | missense_variant | ENSG00000015532 | 2,202 | ENSG00000015532 | 1,220 | 1,220 | ENSG00000015532 | missense_variant | NA | NA | |
17 | 50,360,499 | G | A | false | 3_prime_UTR_variant | 911 | rs140413577 | 0.000078 | 0.007087 | 9.9248 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000015532 | 0 | ENSG00000015532 | 0 | 0 | ENSG00000015532 | 3_prime_UTR_variant | ENSG00000015532 | 3,332 | ENSG00000015532 | 1,520 | 1,520 | ENSG00000015532 | 3_prime_UTR_variant | NA | NA | |
17 | 50,375,395 | T | C | false | missense_variant | 832 | rs17714854 | 0.000474 | 0.01007 | 120.69 | missense_variant | missense_variant | ENSG00000154920 | 0 | ENSG00000154920 | 0 | 0 | ENSG00000154920 | missense_variant | ENSG00000154920 | 209 | ENSG00000154920 | 713 | 209 | ENSG00000154920 | missense_variant | NA | NA | |
17 | 50,375,415 | A | C | false | missense_variant | 834 | rs3760413 | 0.003224 | 0.11116 | 62.876 | missense_variant | missense_variant | ENSG00000154920 | 0 | ENSG00000154920 | 0 | 0 | ENSG00000154920 | missense_variant | ENSG00000154920 | 229 | ENSG00000154920 | 693 | 229 | ENSG00000154920 | missense_variant | NA | NA | |
17 | 50,469,432 | A | G | false | tss_proximal | 904 | rs3809765 | 0.000385 | 0.46739 | 106.01 | intron_variant | pELS | ENSG00000136457 | 525 | ENSG00000167107 | 473 | 473 | ENSG00000167107 | tss_proximal | ENSG00000136457 | 525 | ENSG00000167107 | 473 | 473 | ENSG00000167107 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 50,518,627 | G | C | false | missense_variant | 837 | rs8064455 | 0.000889 | 0.17461 | 44.578 | missense_variant | missense_variant | ENSG00000136449 | 0 | ENSG00000136449 | 0 | 0 | ENSG00000136449 | missense_variant | ENSG00000136449 | 5,092 | ENSG00000136449 | 782 | 782 | ENSG00000136449 | missense_variant | NA | NA | |
17 | 50,523,574 | C | T | false | tss_proximal | 866 | rs147653149 | 0.000207 | 0.002986 | 9.3314 | intron_variant | dELS | ENSG00000136449 | 22 | ENSG00000136449 | 22 | 22 | ENSG00000136449 | tss_proximal | ENSG00000136449 | 145 | ENSG00000136449 | 2,398 | 145 | ENSG00000136449 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 50,526,142 | C | T | false | missense_variant | 824 | rs9890721 | 0.000114 | 0.47098 | 73.198 | missense_variant | missense_variant | ENSG00000136449 | 0 | ENSG00000250286 | 0 | 0 | ENSG00000136449 | missense_variant | ENSG00000136449 | 2,421 | ENSG00000136449 | 168 | 168 | ENSG00000136449 | missense_variant | NA | NA | |
17 | 50,549,221 | G | C | false | tss_proximal | 932 | rs200365010 | 0.000076 | 0.001967 | 7.3688 | intron_variant | pELS_flank | ENSG00000006282 | 34 | ENSG00000006282 | 34 | 34 | ENSG00000006282 | tss_proximal | ENSG00000006282 | 1,171 | ENSG00000006282 | 337 | 337 | ENSG00000006282 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 50,550,799 | A | G | false | missense_variant | 831 | rs62621401 | 0.00238 | 0.014175 | 23.271 | missense_variant | missense_variant | ENSG00000006282 | 0 | ENSG00000006282 | 0 | 0 | ENSG00000006282 | missense_variant | ENSG00000006282 | 2,749 | ENSG00000006282 | 64 | 64 | ENSG00000006282 | missense_variant | NA | NA | |
17 | 50,552,097 | A | G | false | missense_variant | 811 | rs8065903 | 0.000204 | 0.26169 | 90.707 | missense_variant | missense_variant | ENSG00000006282 | 0 | ENSG00000006282 | 0 | 0 | ENSG00000006282 | missense_variant | ENSG00000006282 | 4,047 | ENSG00000006282 | 1,362 | 1,362 | ENSG00000006282 | missense_variant | NA | NA | |
17 | 50,561,087 | C | A | false | 5_prime_UTR_variant | 886 | rs547688355 | 0.000076 | 0.005438 | 21.117 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000006283 | 0 | ENSG00000006283 | 372 | 0 | ENSG00000006283 | 5_prime_UTR_variant | ENSG00000006283 | 0 | ENSG00000006283 | 372 | 0 | ENSG00000006283 | 5_prime_UTR_variant | NA | NA | |
17 | 50,612,439 | G | A | false | distal | 883 | rs3785914 | 0.000503 | 0.36494 | 41.54 | intron_variant | dELS | ENSG00000006283 | 2,503 | ENSG00000006283 | 2,503 | 2,503 | ENSG00000006283 | dELS | ENSG00000006283 | 12,713 | ENSG00000251239 | 19,500 | 12,713 | ENSG00000006283 | distal | NA | NA | |
17 | 50,761,614 | T | C | false | distal | 849 | rs60845236 | 0.000008 | 0.000596 | 51.103 | intron_variant | dELS_flank | ENSG00000167117 | 107 | ENSG00000167117 | 107 | 107 | ENSG00000167117 | dELS_flank | ENSG00000167117 | 5,298 | ENSG00000167117 | 5,902 | 5,298 | ENSG00000167117 | distal | NA | NA | |
17 | 50,799,662 | C | G | false | distal | 881 | rs9900049 | 0.000013 | 0.00035 | 27.13 | intergenic_variant | dELS | ENSG00000167117 | 32,104 | ENSG00000248702 | 2,010 | 2,010 | ENSG00000248702 | dELS | ENSG00000167117 | 32,104 | ENSG00000248702 | 2,010 | 2,010 | ENSG00000248702 | distal | NA | NA | |
17 | 50,799,903 | A | G | false | distal | 881 | rs9901362 | 0.000015 | 0.00033 | 38.384 | intergenic_variant | dELS | ENSG00000167117 | 32,345 | ENSG00000248702 | 2,251 | 2,251 | ENSG00000248702 | dELS | ENSG00000167117 | 32,345 | ENSG00000248702 | 2,251 | 2,251 | ENSG00000248702 | distal | NA | NA | |
17 | 50,799,931 | G | T | false | distal | 881 | rs76538132 | 0.000009 | 0.000149 | 19.981 | intergenic_variant | dELS | ENSG00000167117 | 32,373 | ENSG00000248702 | 2,279 | 2,279 | ENSG00000248702 | dELS | ENSG00000167117 | 32,373 | ENSG00000248702 | 2,279 | 2,279 | ENSG00000248702 | distal | NA | NA | |
17 | 50,800,350 | G | A | false | distal | 881 | rs79637612 | 0.000013 | 0.000329 | 31.331 | intergenic_variant | dELS | ENSG00000167117 | 32,792 | ENSG00000248702 | 2,698 | 2,698 | ENSG00000248702 | dELS | ENSG00000167117 | 32,792 | ENSG00000248702 | 2,698 | 2,698 | ENSG00000248702 | distal | NA | NA | |
17 | 50,800,413 | C | T | false | distal | 881 | rs766313444 | 0.000008 | 0.000679 | 11.776 | intergenic_variant | dELS | ENSG00000167117 | 32,855 | ENSG00000248702 | 2,761 | 2,761 | ENSG00000248702 | dELS | ENSG00000167117 | 32,855 | ENSG00000248702 | 2,761 | 2,761 | ENSG00000248702 | distal | NA | NA | |
17 | 50,836,117 | C | T | false | synonymous_variant | 894 | rs77632597 | 0.000408 | 0.063469 | 54.928 | synonymous_variant | synonymous_variant | ENSG00000173714 | 0 | ENSG00000261976 | 3,939 | 0 | ENSG00000173714 | synonymous_variant | ENSG00000173714 | 530 | ENSG00000261976 | 5,508 | 530 | ENSG00000173714 | synonymous_variant | NA | NA | |
17 | 51,155,392 | C | G | false | distal | 843 | rs35347299 | 0.001525 | 0.18113 | 126.02 | intron_variant | pELS_flank | ENSG00000239672 | 258 | ENSG00000239672 | 258 | 258 | ENSG00000239672 | pELS_flank | ENSG00000239672 | 1,347 | ENSG00000239672 | 1,054 | 1,054 | ENSG00000239672 | distal | NA | NA | |
17 | 51,164,112 | C | A | false | distal | 905 | rs147772898 | 0.000132 | 0.005497 | 22.219 | intergenic_variant | intergenic_variant | ENSG00000243678 | 1,322 | ENSG00000239672 | 2,076 | 1,322 | ENSG00000243678 | intergenic_variant | ENSG00000243678 | 1,322 | ENSG00000243678 | 2,324 | 1,322 | ENSG00000243678 | distal | NA | NA | |
17 | 51,164,113 | T | A | false | distal | 905 | rs139519494 | 0.000138 | 0.005493 | 22.234 | intergenic_variant | intergenic_variant | ENSG00000243678 | 1,321 | ENSG00000239672 | 2,077 | 1,321 | ENSG00000243678 | intergenic_variant | ENSG00000243678 | 1,321 | ENSG00000243678 | 2,323 | 1,321 | ENSG00000243678 | distal | NA | NA | |
17 | 51,167,386 | G | C | false | tss_proximal | 903 | rs4605213 | 0.001144 | 0.35753 | 132.15 | intron_variant | pELS_flank | ENSG00000243678 | 429 | ENSG00000243678 | 66 | 66 | ENSG00000243678 | tss_proximal | ENSG00000243678 | 821 | ENSG00000243678 | 632 | 632 | ENSG00000243678 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 51,192,773 | C | A | false | missense_variant | 822 | rs117564084 | 0.000784 | 0.002607 | 5.1193 | missense_variant | missense_variant | ENSG00000011258 | 0 | ENSG00000011258 | 0 | 0 | ENSG00000011258 | missense_variant | ENSG00000011258 | 16,630 | ENSG00000011258 | 242 | 242 | ENSG00000011258 | missense_variant | NA | NA | |
17 | 52,180,568 | A | G | false | distal | 908 | rs9908649 | 0.007027 | 0.3319 | 213.41 | intergenic_variant | intergenic_variant | ENSG00000154975 | 20,550 | ENSG00000154975 | 22,504 | 20,550 | ENSG00000154975 | intergenic_variant | ENSG00000154975 | 20,550 | ENSG00000154975 | 22,504 | 20,550 | ENSG00000154975 | distal | NA | NA | |
17 | 52,184,596 | A | T | false | distal | 908 | rs34327448 | 0.001877 | 0.32928 | 211.02 | intergenic_variant | intergenic_variant | ENSG00000154975 | 24,578 | ENSG00000154975 | 26,532 | 24,578 | ENSG00000154975 | intergenic_variant | ENSG00000154975 | 24,578 | ENSG00000154975 | 26,532 | 24,578 | ENSG00000154975 | distal | NA | NA | |
17 | 54,906,947 | T | C | false | distal | 849 | rs148222736 | 0.000034 | 0.001537 | 8.3067 | intron_variant | dELS_flank | ENSG00000141198 | 160 | ENSG00000141198 | 160 | 160 | ENSG00000141198 | dELS_flank | ENSG00000141198 | 5,812 | ENSG00000141198 | 6,083 | 5,812 | ENSG00000141198 | distal | NA | NA | |
17 | 54,907,010 | G | T | false | distal | 849 | rs561670964 | 0.000029 | 0.001197 | 6.5125 | intron_variant | dELS_flank | ENSG00000141198 | 223 | ENSG00000141198 | 223 | 223 | ENSG00000141198 | dELS_flank | ENSG00000141198 | 5,875 | ENSG00000141198 | 6,146 | 5,875 | ENSG00000141198 | distal | NA | NA | |
17 | 54,942,339 | C | A | false | missense_variant | 838 | rs117455270 | 0.000078 | 0.010567 | 20.353 | missense_variant | missense_variant | ENSG00000141198 | 3,318 | ENSG00000141198 | 0 | 0 | ENSG00000141198 | missense_variant | ENSG00000141198 | 3,414 | ENSG00000141198 | 3,557 | 3,414 | ENSG00000141198 | missense_variant | NA | NA | |
17 | 54,968,711 | C | G | false | tss_proximal | 930 | rs17209882 | 0.000207 | 0.11628 | 106.5 | upstream_gene_variant | PLS | ENSG00000166260 | 7 | ENSG00000166263 | 15 | 7 | ENSG00000166260 | tss_proximal | ENSG00000166260 | 7 | ENSG00000166263 | 15 | 7 | ENSG00000166260 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 55,267,665 | T | C | false | 5_prime_UTR_variant | 889 | rs559122453 | 0.000034 | 0.004744 | 13.419 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000108924 | 0 | ENSG00000108924 | 0 | 0 | ENSG00000108924 | 5_prime_UTR_variant | ENSG00000108924 | 73 | ENSG00000108924 | 49 | 49 | ENSG00000108924 | 5_prime_UTR_variant | NA | NA |
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