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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
11 | 65,599,024 | A | T | false | distal | 402 | rs11227235 | 0.006911 | 0.26632 | 147.9 | intron_variant | CA-TF | ENSG00000173327 | 369 | ENSG00000173327 | 369 | 369 | ENSG00000173327 | CA-TF | ENSG00000173338 | 3,027 | ENSG00000173442 | 7,201 | 3,027 | ENSG00000173338 | distal | NA | NA | |
11 | 65,599,139 | C | A | false | distal | 402 | rs10896022 | 0.006614 | 0.26636 | 147.91 | intron_variant | CA-TF | ENSG00000173327 | 254 | ENSG00000173327 | 254 | 254 | ENSG00000173327 | CA-TF | ENSG00000173338 | 3,142 | ENSG00000173327 | 7,256 | 3,142 | ENSG00000173338 | distal | NA | NA | |
11 | 65,599,525 | G | C | false | missense_variant | 307 | rs144595056 | 0.000295 | 0.000112 | 96.72 | missense_variant | missense_variant | ENSG00000173327 | 0 | ENSG00000173327 | 0 | 0 | ENSG00000173327 | missense_variant | ENSG00000173338 | 3,528 | ENSG00000173327 | 6,870 | 3,528 | ENSG00000173338 | missense_variant | NA | NA | |
11 | 65,599,561 | G | A | true | missense_variant | 307 | rs199769348 | 1 | UA | 0.000738 | 14.371 | missense_variant | missense_variant | ENSG00000173327 | 0 | ENSG00000173327 | 0 | 0 | ENSG00000173327 | missense_variant | ENSG00000173338 | 3,564 | ENSG00000173327 | 6,834 | 3,564 | ENSG00000173338 | missense_variant | NA | NA |
11 | 65,616,658 | G | A | false | tss_proximal | 376 | rs78407319 | 0.002514 | 0.020068 | 55.73 | intron_variant | pELS | ENSG00000197136 | 165 | ENSG00000173327 | 1,275 | 165 | ENSG00000197136 | tss_proximal | ENSG00000197136 | 881 | ENSG00000173327 | 1,275 | 881 | ENSG00000197136 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 65,636,499 | G | T | false | missense_variant | 293 | rs571835847 | 0.000124 | 0.000102 | 2.4342 | missense_variant | missense_variant | ENSG00000197136 | 0 | ENSG00000197136 | 0 | 0 | ENSG00000197136 | missense_variant | ENSG00000213445 | 1,601 | ENSG00000266041 | 188 | 188 | ENSG00000266041 | missense_variant | NA | NA | |
11 | 65,636,547 | G | A | false | missense_variant | 290 | rs77200859 | 0.000522 | 0.037911 | 66.347 | missense_variant | missense_variant | ENSG00000197136 | 0 | ENSG00000197136 | 0 | 0 | ENSG00000197136 | missense_variant | ENSG00000213445 | 1,553 | ENSG00000266041 | 236 | 236 | ENSG00000266041 | missense_variant | NA | NA | |
11 | 65,638,129 | G | T | true | 5_prime_UTR_variant | 283 | rs2306363 | 0.985745 | DBP,MAP | 0.20665 | 137.15 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000213445 | 0 | ENSG00000197136 | 823 | 0 | ENSG00000213445 | 5_prime_UTR_variant | ENSG00000213445 | 6 | ENSG00000266041 | 1,818 | 6 | ENSG00000213445 | 5_prime_UTR_variant | NA | NA |
11 | 65,659,875 | G | A | false | non_coding_transcript_exon_variant | 353 | rs2306365 | 0.007329 | 0.13372 | 172.42 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000173039 | 77 | ENSG00000173039 | 0 | 0 | ENSG00000173039 | non_coding_transcript_exon_variant | ENSG00000173039 | 131 | ENSG00000173039 | 286 | 131 | ENSG00000173039 | non_coding_transcript_exon_variant | NA | NA | |
11 | 65,663,889 | C | T | false | non_coding_transcript_exon_variant | 353 | rs7101916 | 0.007621 | 0.13372 | 172.47 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000173039 | 798 | ENSG00000285533 | 0 | 0 | ENSG00000285533 | non_coding_transcript_exon_variant | ENSG00000173039 | 798 | ENSG00000285533 | 619 | 619 | ENSG00000285533 | non_coding_transcript_exon_variant | NA | NA | |
11 | 65,715,356 | C | T | false | tss_proximal | 375 | rs4645927 | 0.008197 | 0.34138 | 233.66 | intron_variant | intron_variant | ENSG00000172977 | 445 | ENSG00000172922 | 38 | 38 | ENSG00000172922 | tss_proximal | ENSG00000172977 | 2,550 | ENSG00000172977 | 876 | 876 | ENSG00000172977 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 65,786,609 | G | A | false | tss_proximal | 380 | rs11227301 | 0.001161 | 0.14678 | 172.53 | upstream_gene_variant | pELS | ENSG00000172818 | 453 | ENSG00000255120 | 2,441 | 453 | ENSG00000172818 | tss_proximal | ENSG00000172818 | 453 | ENSG00000255120 | 3,265 | 453 | ENSG00000172818 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 65,880,856 | G | C | false | distal | 401 | rs74572640 | 0.000569 | 0.010711 | 42.738 | intron_variant | pELS | ENSG00000172543 | 550 | ENSG00000172543 | 233 | 233 | ENSG00000172543 | pELS | ENSG00000172543 | 1,018 | ENSG00000172543 | 1,013 | 1,013 | ENSG00000172543 | distal | NA | NA | |
11 | 65,921,619 | A | G | false | tss_proximal | 404 | rs72926844 | 0.001254 | 0.026273 | 131.56 | downstream_gene_variant | pELS | ENSG00000175550 | 55 | ENSG00000175550 | 74 | 55 | ENSG00000175550 | tss_proximal | ENSG00000175550 | 1,894 | ENSG00000175550 | 566 | 566 | ENSG00000175550 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
11 | 66,052,460 | G | T | false | missense_variant | 317 | rs11554199 | 0.000153 | 0.007598 | 38.887 | missense_variant | missense_variant | ENSG00000087365 | 0 | ENSG00000087365 | 0 | 0 | ENSG00000087365 | missense_variant | ENSG00000087365 | 59 | ENSG00000087365 | 66 | 59 | ENSG00000087365 | missense_variant | NA | NA | |
11 | 66,116,225 | G | A | false | distal | 335 | rs11227413 | 0.005041 | 0.18582 | 246.7 | intron_variant | dELS | ENSG00000175115 | 4,795 | ENSG00000175115 | 45,382 | 4,795 | ENSG00000175115 | dELS | ENSG00000175115 | 15,461 | ENSG00000175115 | 45,861 | 15,461 | ENSG00000175115 | distal | NA | NA | |
11 | 66,117,988 | T | C | false | distal | 335 | rs11227415 | 0.004823 | 0.18579 | 246.72 | intron_variant | dELS | ENSG00000175115 | 3,032 | ENSG00000175115 | 47,145 | 3,032 | ENSG00000175115 | dELS | ENSG00000175115 | 17,224 | ENSG00000175115 | 47,624 | 17,224 | ENSG00000175115 | distal | NA | NA | |
11 | 66,225,217 | C | A | false | distal | 339 | rs72936672 | 0.000142 | 0.28138 | 120.71 | intron_variant | dELS | ENSG00000175115 | 2,286 | ENSG00000175115 | 3,573 | 2,286 | ENSG00000175115 | dELS | ENSG00000175115 | 5,162 | ENSG00000175115 | 4,546 | 4,546 | ENSG00000175115 | distal | NA | NA | |
11 | 66,261,659 | G | C | false | 5_prime_UTR_variant | 279 | rs572827 | 0.000598 | 0.07548 | 126.82 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000174996 | 0 | ENSG00000254461 | 65 | 0 | ENSG00000174996 | 5_prime_UTR_variant | ENSG00000174996 | 745 | ENSG00000254461 | 174 | 174 | ENSG00000254461 | 5_prime_UTR_variant | NA | NA | |
11 | 66,264,919 | G | A | false | tss_proximal | 374 | rs528842 | 0.000316 | 0.47825 | 165.15 | intron_variant | pELS_flank | ENSG00000174996 | 103 | ENSG00000254855 | 56 | 56 | ENSG00000254855 | tss_proximal | ENSG00000174903 | 3,670 | ENSG00000254855 | 746 | 746 | ENSG00000254855 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 66,336,010 | C | T | false | missense_variant | 294 | rs140145986 | 0.001013 | 0.061631 | 101.82 | missense_variant | missense_variant | ENSG00000174791 | 0 | ENSG00000174791 | 1 | 0 | ENSG00000174791 | missense_variant | ENSG00000174791 | 391 | ENSG00000174791 | 1 | 1 | ENSG00000174791 | missense_variant | NA | NA | |
11 | 66,338,790 | G | A | false | splicing | 406 | rs143489952 | 0.000542 | 0.052847 | 101.61 | splice_region_variant | splice_region_variant | ENSG00000174744 | 4 | ENSG00000174744 | 4 | 4 | ENSG00000174744 | splice_region_variant | ENSG00000174791 | 1,949 | ENSG00000174791 | 2,353 | 1,949 | ENSG00000174791 | splicing | NA | splicing:b0 | |
11 | 66,421,290 | G | T | false | synonymous_variant | 285 | rs77600363 | 0.001053 | 0.23142 | 192.56 | synonymous_variant | synonymous_variant | ENSG00000174576 | 0 | ENSG00000174576 | 0 | 0 | ENSG00000174576 | synonymous_variant | ENSG00000174576 | 254 | ENSG00000174576 | 198 | 198 | ENSG00000174576 | synonymous_variant | NA | NA | |
11 | 66,475,677 | C | T | false | missense_variant | 315 | rs145732233 | 0.000098 | 0.00433 | 74.568 | missense_variant | missense_variant | ENSG00000174516 | 0 | ENSG00000174516 | 0 | 0 | ENSG00000174516 | missense_variant | ENSG00000174516 | 2,252 | ENSG00000255517 | 951 | 951 | ENSG00000255517 | missense_variant | NA | NA | |
11 | 66,507,487 | A | C | false | distal | 385 | rs74933537 | 0.007803 | 0.24506 | 234.31 | intron_variant | intron_variant | ENSG00000256349 | 1,591 | ENSG00000254986 | 1,591 | 1,591 | ENSG00000256349 | intron_variant | ENSG00000256349 | 1,591 | ENSG00000254986 | 2,841 | 1,591 | ENSG00000256349 | distal | NA | NA | |
11 | 66,566,172 | G | A | false | missense_variant | 294 | rs78871927 | 0.000543 | 0.070106 | 149.32 | missense_variant | missense_variant | ENSG00000174080 | 4 | ENSG00000174080 | 0 | 0 | ENSG00000174080 | missense_variant | ENSG00000174080 | 2,402 | ENSG00000174080 | 23 | 23 | ENSG00000174080 | missense_variant | NA | NA | |
11 | 66,671,779 | C | T | false | distal | 389 | rs376409058 | 0.000137 | 0.007238 | 24.972 | intron_variant | intron_variant | ENSG00000173914 | 795 | ENSG00000173914 | 2,943 | 795 | ENSG00000173914 | intron_variant | ENSG00000173914 | 5,968 | ENSG00000173914 | 2,943 | 2,943 | ENSG00000173914 | distal | NA | NA | |
11 | 66,793,511 | T | C | false | distal | 384 | rs4576826 | 0.001948 | 0.2625 | 216.34 | intron_variant | intron_variant | ENSG00000173715 | 2,769 | ENSG00000173715 | 2,385 | 2,385 | ENSG00000173715 | intron_variant | ENSG00000173715 | 5,350 | ENSG00000173715 | 2,385 | 2,385 | ENSG00000173715 | distal | NA | NA | |
11 | 66,908,802 | C | T | false | tss_proximal | 377 | rs11227623 | 0.001254 | 0.10158 | 84.893 | intron_variant | pELS | ENSG00000173599 | 900 | ENSG00000239099 | 10,959 | 900 | ENSG00000173599 | tss_proximal | ENSG00000173599 | 900 | ENSG00000239099 | 10,959 | 900 | ENSG00000173599 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 67,292,140 | G | A | false | missense_variant | 305 | rs144569146 | 0.000128 | 0.00024 | 3.3652 | missense_variant | missense_variant | ENSG00000172932 | 0 | ENSG00000172932 | 0 | 0 | ENSG00000172932 | missense_variant | ENSG00000172932 | 2,836 | ENSG00000172932 | 1 | 1 | ENSG00000172932 | missense_variant | NA | NA | |
11 | 67,306,922 | G | A | false | missense_variant | 292 | rs61731165 | 0.000213 | 0.018737 | 32.598 | missense_variant | missense_variant | ENSG00000172830 | 0 | ENSG00000172830 | 0 | 0 | ENSG00000172830 | missense_variant | ENSG00000172830 | 734 | ENSG00000172830 | 650 | 650 | ENSG00000172830 | missense_variant | NA | NA | |
11 | 67,405,951 | G | A | false | missense_variant | 292 | rs78320186 | 0.001623 | 0.018504 | 49.055 | missense_variant | missense_variant | ENSG00000175463 | 0 | ENSG00000175463 | 0 | 0 | ENSG00000175463 | missense_variant | ENSG00000175463 | 1,763 | ENSG00000175463 | 702 | 702 | ENSG00000175463 | missense_variant | NA | NA | |
11 | 67,419,524 | G | A | false | missense_variant | 315 | rs41302427 | 0.000193 | 0.005138 | 61.031 | missense_variant | missense_variant | ENSG00000172508 | 0 | ENSG00000172531 | 0 | 0 | ENSG00000172508 | missense_variant | ENSG00000172508 | 3,437 | ENSG00000172531 | 1,656 | 1,656 | ENSG00000172531 | missense_variant | NA | NA | |
11 | 67,440,200 | T | C | false | missense_variant | 305 | rs201287964 | 0.000154 | 0.000039 | 1.1906 | missense_variant | missense_variant | ENSG00000172725 | 0 | ENSG00000172725 | 0 | 0 | ENSG00000172725 | missense_variant | ENSG00000213402 | 2,517 | ENSG00000172725 | 0 | 0 | ENSG00000172725 | missense_variant | NA | NA | |
11 | 67,444,562 | G | T | false | tss_proximal | 376 | rs117703786 | 0.000213 | 0.021936 | 104.85 | upstream_gene_variant | pELS | ENSG00000172725 | 740 | ENSG00000172725 | 1,074 | 740 | ENSG00000172725 | tss_proximal | ENSG00000172725 | 740 | ENSG00000172725 | 1,074 | 740 | ENSG00000172725 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 67,456,530 | C | G | false | distal | 401 | rs56769021 | 0.000277 | 0.009735 | 103.54 | intron_variant | pELS | ENSG00000175544 | 87 | ENSG00000175544 | 112 | 87 | ENSG00000175544 | pELS | ENSG00000175544 | 1,175 | ENSG00000175544 | 1,126 | 1,126 | ENSG00000175544 | distal | NA | NA | |
11 | 67,458,626 | C | T | false | splicing | 405 | rs72934713 | 0.000103 | 0.093236 | 67.872 | splice_region_variant | splice_region_variant | ENSG00000175544 | 4 | ENSG00000175544 | 976 | 4 | ENSG00000175544 | splice_region_variant | ENSG00000175544 | 3,271 | ENSG00000175544 | 3,222 | 3,222 | ENSG00000175544 | splicing | NA | splicing:b0 | |
11 | 67,628,163 | C | T | false | missense_variant | 306 | rs35181012 | 0.000032 | 0.039542 | 88.21 | missense_variant | missense_variant | ENSG00000167799 | 0 | ENSG00000167799 | 0 | 0 | ENSG00000167799 | missense_variant | ENSG00000167799 | 1,766 | ENSG00000167799 | 1,757 | 1,757 | ENSG00000167799 | missense_variant | NA | NA | |
11 | 67,628,208 | G | A | false | missense_variant | 315 | rs61738767 | 0.002184 | 0.005622 | 22.843 | missense_variant | missense_variant | ENSG00000167799 | 0 | ENSG00000167799 | 0 | 0 | ENSG00000167799 | missense_variant | ENSG00000167799 | 1,721 | ENSG00000167799 | 1,712 | 1,712 | ENSG00000167799 | missense_variant | NA | NA | |
11 | 67,634,891 | T | G | false | missense_variant | 287 | rs3758938 | 0.001848 | 0.3129 | 160.94 | missense_variant | missense_variant | ENSG00000167800 | 0 | ENSG00000167799 | 4,969 | 0 | ENSG00000167800 | missense_variant | ENSG00000167800 | 4,871 | ENSG00000167799 | 4,969 | 4,871 | ENSG00000167800 | missense_variant | NA | NA | |
11 | 68,031,100 | G | A | false | 5_prime_UTR_variant | 278 | rs1122731 | 0.000161 | 0.23794 | 149.83 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000110717 | 0 | ENSG00000110717 | 138 | 0 | ENSG00000110717 | 5_prime_UTR_variant | ENSG00000110717 | 133 | ENSG00000110717 | 356 | 133 | ENSG00000110717 | 5_prime_UTR_variant | NA | NA | |
11 | 68,044,979 | G | A | false | missense_variant | 293 | rs146023337 | 0.002338 | 0.00011 | 1.5121 | missense_variant | missense_variant | ENSG00000110719 | 0 | ENSG00000110719 | 0 | 0 | ENSG00000110719 | missense_variant | ENSG00000110719 | 1,610 | ENSG00000275022 | 184 | 184 | ENSG00000275022 | missense_variant | NA | NA | |
11 | 68,047,512 | G | C | false | missense_variant | 305 | rs2471829 | 0.000085 | 0.00022 | 153.25 | missense_variant | missense_variant | ENSG00000110719 | 0 | ENSG00000110719 | 0 | 0 | ENSG00000110719 | missense_variant | ENSG00000110719 | 2,533 | ENSG00000110719 | 37 | 37 | ENSG00000110719 | missense_variant | NA | NA | |
11 | 68,048,939 | G | A | false | missense_variant | 293 | rs142539969 | 0.0002 | 0.000335 | 3.2114 | missense_variant | missense_variant | ENSG00000110719 | 0 | ENSG00000110719 | 0 | 0 | ENSG00000110719 | missense_variant | ENSG00000110719 | 1,106 | ENSG00000110719 | 208 | 208 | ENSG00000110719 | missense_variant | NA | NA | |
11 | 68,049,469 | A | G | false | non_coding_transcript_exon_variant | 350 | rs2075609 | 0.000918 | 0.26893 | 145.23 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110719 | 174 | ENSG00000110719 | 0 | 0 | ENSG00000110719 | non_coding_transcript_exon_variant | ENSG00000110719 | 576 | ENSG00000110719 | 320 | 320 | ENSG00000110719 | non_coding_transcript_exon_variant | NA | NA | |
11 | 68,315,817 | C | G | false | distal | 339 | rs312015 | 0.001003 | 0.2833 | 104.38 | intron_variant | dELS | ENSG00000162337 | 3,011 | ENSG00000162337 | 3,011 | 3,011 | ENSG00000162337 | dELS | ENSG00000162337 | 3,225 | ENSG00000162337 | 3,132 | 3,132 | ENSG00000162337 | distal | NA | NA | |
11 | 68,332,154 | G | A | true | distal | 360 | rs61887821 | 0.998325 | eBMD | 0.005695 | 30.273 | intron_variant | dELS_flank | ENSG00000162337 | 15,692 | ENSG00000162337 | 15,692 | 15,692 | ENSG00000162337 | dELS_flank | ENSG00000162337 | 19,562 | ENSG00000162337 | 19,469 | 19,469 | ENSG00000162337 | distal | NA | NA |
11 | 68,343,741 | G | A | false | distal | 321 | rs74743 | 0.000435 | 0.30876 | 147.22 | intron_variant | dELS | ENSG00000162337 | 4,105 | ENSG00000162337 | 4,105 | 4,105 | ENSG00000162337 | dELS | ENSG00000162337 | 31,149 | ENSG00000162337 | 31,056 | 31,056 | ENSG00000162337 | distal | NA | NA | |
11 | 68,346,256 | T | C | false | distal | 321 | rs312781 | 0.000453 | 0.30869 | 147.22 | intron_variant | dELS | ENSG00000162337 | 1,590 | ENSG00000162337 | 1,590 | 1,590 | ENSG00000162337 | dELS | ENSG00000162337 | 33,664 | ENSG00000162337 | 33,571 | 33,571 | ENSG00000162337 | distal | NA | NA | |
11 | 68,406,721 | G | A | true | missense_variant | 308 | rs4988321 | 1 | eBMD | 0.050931 | 70.836 | missense_variant | missense_variant | ENSG00000162337 | 0 | ENSG00000162337 | 0 | 0 | ENSG00000162337 | missense_variant | ENSG00000162337 | 33,151 | ENSG00000162337 | 2,743 | 2,743 | ENSG00000162337 | missense_variant | NA | NA |
11 | 68,505,505 | T | G | false | distal | 326 | rs59056571 | 0.009694 | 0.26329 | 338.86 | intron_variant | dELS | ENSG00000110075 | 233 | ENSG00000110075 | 255 | 233 | ENSG00000110075 | dELS | ENSG00000110075 | 14,000 | ENSG00000110075 | 14,057 | 14,000 | ENSG00000110075 | distal | NA | NA | |
11 | 68,550,047 | A | G | false | distal | 342 | rs7927922 | 0.000098 | 0.081652 | 139.51 | intron_variant | dELS | ENSG00000110075 | 1,073 | ENSG00000110075 | 942 | 942 | ENSG00000110075 | dELS | ENSG00000110075 | 8,594 | ENSG00000110075 | 8,148 | 8,148 | ENSG00000110075 | distal | NA | NA | |
11 | 68,593,419 | T | G | false | distal | 359 | rs2513277 | 0.001789 | 0.34479 | 349.08 | intron_variant | dELS_flank | ENSG00000110075 | 1,712 | ENSG00000110075 | 1,712 | 1,712 | ENSG00000110075 | dELS_flank | ENSG00000110075 | 16,531 | ENSG00000110075 | 7,142 | 7,142 | ENSG00000110075 | distal | NA | NA | |
11 | 68,794,860 | C | T | true | missense_variant | 309 | rs2229738 | 0.943885 | ALP | 0.065897 | 47.447 | missense_variant | missense_variant | ENSG00000110090 | 0 | ENSG00000110090 | 20,972 | 0 | ENSG00000110090 | missense_variant | ENSG00000110090 | 4,407 | ENSG00000110090 | 20,972 | 4,407 | ENSG00000110090 | missense_variant | NA | NA |
11 | 68,818,586 | C | T | false | tss_proximal | 403 | rs3019608 | 0.000343 | 0.0131 | 67.497 | intron_variant | dELS_flank | ENSG00000110090 | 12 | ENSG00000110090 | 44,698 | 12 | ENSG00000110090 | tss_proximal | ENSG00000110090 | 105 | ENSG00000110090 | 44,698 | 105 | ENSG00000110090 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
11 | 68,869,307 | G | C | false | distal | 397 | rs496476 | 0.000385 | 0.09279 | 89.493 | intergenic_variant | pELS | ENSG00000197345 | 21,968 | ENSG00000250508 | 1,356 | 1,356 | ENSG00000250508 | pELS | ENSG00000110090 | 24,896 | ENSG00000250508 | 1,356 | 1,356 | ENSG00000250508 | distal | NA | NA | |
11 | 68,933,798 | C | A | false | missense_variant | 305 | rs61731907 | 0.000364 | 0.000049 | 4.9204 | missense_variant | missense_variant | ENSG00000132740 | 0 | ENSG00000132740 | 0 | 0 | ENSG00000132740 | missense_variant | ENSG00000132740 | 2,438 | ENSG00000132740 | 115 | 115 | ENSG00000132740 | missense_variant | NA | NA | |
11 | 68,963,054 | C | T | false | distal | 319 | rs72914680 | 0.001315 | 0.023122 | 44.684 | intergenic_variant | dELS | ENSG00000172938 | 16,966 | ENSG00000255741 | 20,201 | 16,966 | ENSG00000172938 | dELS | ENSG00000172938 | 17,931 | ENSG00000255741 | 20,201 | 17,931 | ENSG00000172938 | distal | NA | NA | |
11 | 69,105,375 | C | T | true | distal | 397 | rs72930659 | 0.99085 | eGFR,sCr | 0.099639 | 85.886 | intron_variant | pELS | ENSG00000162341 | 14,777 | ENSG00000260895 | 1,502 | 1,502 | ENSG00000260895 | pELS | ENSG00000284713 | 50,102 | ENSG00000260895 | 1,881 | 1,881 | ENSG00000260895 | distal | NA | NA |
11 | 69,112,447 | T | C | true | distal | 331 | rs56238214 | 0.996985 | eGFRcys,sCr | 0.03012 | 20.13 | intron_variant | dELS | ENSG00000162341 | 21,849 | ENSG00000260895 | 3,352 | 3,352 | ENSG00000260895 | dELS | ENSG00000284713 | 43,030 | ENSG00000260895 | 8,953 | 8,953 | ENSG00000260895 | distal | NA | NA |
11 | 69,113,682 | A | G | false | distal | 331 | rs72475634 | 0.000211 | 0.011751 | 25.11 | intron_variant | dELS | ENSG00000162341 | 21,752 | ENSG00000260895 | 4,587 | 4,587 | ENSG00000260895 | dELS | ENSG00000284713 | 41,795 | ENSG00000260895 | 10,188 | 10,188 | ENSG00000260895 | distal | NA | NA | |
11 | 69,149,433 | G | A | false | distal | 402 | rs12794032 | 0.007158 | 0.29986 | 105.35 | intron_variant | CA-TF | ENSG00000284713 | 6,044 | ENSG00000261070 | 1,692 | 1,692 | ENSG00000261070 | CA-TF | ENSG00000284713 | 6,044 | ENSG00000284713 | 6,476 | 6,044 | ENSG00000284713 | distal | NA | NA | |
11 | 69,273,989 | C | A | false | distal | 324 | rs73510390 | 0.000923 | 0.029065 | 45.441 | intergenic_variant | dELS | ENSG00000172927 | 20,165 | ENSG00000172927 | 20,161 | 20,161 | ENSG00000172927 | dELS | ENSG00000172927 | 20,165 | ENSG00000172927 | 20,161 | 20,161 | ENSG00000172927 | distal | NA | NA | |
11 | 69,294,168 | G | A | false | 5_prime_UTR_variant | 279 | rs72930287 | 0.006044 | 0.075921 | 64.071 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000172927 | 0 | ENSG00000172927 | 0 | 0 | ENSG00000172927 | 5_prime_UTR_variant | ENSG00000172927 | 9 | ENSG00000172927 | 3 | 3 | ENSG00000172927 | 5_prime_UTR_variant | NA | NA | |
11 | 69,311,327 | G | A | false | distal | 332 | rs12807388 | 0.000633 | 0.10926 | 37.94 | intron_variant | dELS | ENSG00000172927 | 14,039 | ENSG00000260877 | 1,861 | 1,861 | ENSG00000260877 | dELS | ENSG00000172927 | 17,168 | ENSG00000213275 | 7,519 | 7,519 | ENSG00000213275 | distal | NA | NA | |
11 | 69,311,445 | T | C | false | distal | 332 | rs10896464 | 0.000241 | 0.09581 | 40.656 | intron_variant | dELS | ENSG00000172927 | 14,157 | ENSG00000260877 | 1,979 | 1,979 | ENSG00000260877 | dELS | ENSG00000172927 | 17,286 | ENSG00000213275 | 7,637 | 7,637 | ENSG00000213275 | distal | NA | NA | |
11 | 69,312,240 | C | T | true | distal | 332 | rs67330701 | 0.999985 | WHRadjBMI | 0.09206 | 40.071 | intron_variant | dELS | ENSG00000172927 | 14,952 | ENSG00000260877 | 2,774 | 2,774 | ENSG00000260877 | dELS | ENSG00000172927 | 18,081 | ENSG00000213275 | 8,432 | 8,432 | ENSG00000213275 | distal | NA | NA |
11 | 69,336,164 | G | A | true | distal | 398 | rs72932183 | 1 | WHRadjBMI | 0.17391 | 46.306 | intron_variant | pELS | ENSG00000172927 | 38,876 | ENSG00000260877 | 1,195 | 1,195 | ENSG00000260877 | pELS | ENSG00000172927 | 42,005 | ENSG00000260877 | 1,195 | 1,195 | ENSG00000260877 | distal | NA | NA |
11 | 69,492,939 | G | A | true | non_coding_transcript_exon_variant | 351 | rs1485995 | 0.997545 | Alb | 0.33036 | 49.54 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110092 | 148,216 | ENSG00000285094 | 0 | 0 | ENSG00000285094 | non_coding_transcript_exon_variant | ENSG00000110092 | 148,216 | ENSG00000285094 | 7,327 | 7,327 | ENSG00000285094 | non_coding_transcript_exon_variant | NA | NA |
11 | 69,494,047 | A | G | false | non_coding_transcript_exon_variant | 351 | rs596146 | 0.001431 | 0.33196 | 83.92 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110092 | 147,108 | ENSG00000285094 | 0 | 0 | ENSG00000285094 | non_coding_transcript_exon_variant | ENSG00000110092 | 147,108 | ENSG00000285094 | 8,435 | 8,435 | ENSG00000285094 | non_coding_transcript_exon_variant | NA | NA | |
11 | 69,494,129 | C | T | false | non_coding_transcript_exon_variant | 351 | rs623110 | 0.001067 | 0.3311 | 83.77 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110092 | 147,026 | ENSG00000285094 | 0 | 0 | ENSG00000285094 | non_coding_transcript_exon_variant | ENSG00000110092 | 147,026 | ENSG00000285094 | 8,517 | 8,517 | ENSG00000285094 | non_coding_transcript_exon_variant | NA | NA | |
11 | 69,494,758 | T | C | false | non_coding_transcript_exon_variant | 351 | rs486564 | 0.001051 | 0.33108 | 83.759 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110092 | 146,397 | ENSG00000285094 | 0 | 0 | ENSG00000285094 | non_coding_transcript_exon_variant | ENSG00000110092 | 146,397 | ENSG00000285094 | 9,146 | 9,146 | ENSG00000285094 | non_coding_transcript_exon_variant | NA | NA | |
11 | 69,538,387 | C | T | false | distal | 333 | rs546015627 | 0.000431 | 0.004097 | 16.459 | intergenic_variant | dELS | ENSG00000110092 | 102,768 | ENSG00000285094 | 43,434 | 43,434 | ENSG00000285094 | dELS | ENSG00000110092 | 102,768 | ENSG00000285094 | 52,775 | 52,775 | ENSG00000285094 | distal | NA | NA | |
11 | 69,538,824 | A | G | false | distal | 333 | rs74764153 | 0.000134 | 0.014361 | 21.829 | intergenic_variant | dELS | ENSG00000110092 | 102,331 | ENSG00000285094 | 43,871 | 43,871 | ENSG00000285094 | dELS | ENSG00000110092 | 102,331 | ENSG00000285094 | 53,212 | 53,212 | ENSG00000285094 | distal | NA | NA | |
11 | 69,538,921 | A | C | false | distal | 333 | rs596676 | 0.000101 | 0.001942 | 76.226 | intergenic_variant | dELS | ENSG00000110092 | 102,234 | ENSG00000285094 | 43,968 | 43,968 | ENSG00000285094 | dELS | ENSG00000110092 | 102,234 | ENSG00000285094 | 53,309 | 53,309 | ENSG00000285094 | distal | NA | NA | |
11 | 69,539,259 | G | A | false | distal | 333 | rs117568509 | 0.000133 | 0.039171 | 37.03 | intergenic_variant | dELS | ENSG00000110092 | 101,896 | ENSG00000285094 | 44,306 | 44,306 | ENSG00000285094 | dELS | ENSG00000110092 | 101,896 | ENSG00000285094 | 53,647 | 53,647 | ENSG00000285094 | distal | NA | NA | |
11 | 69,539,639 | C | T | false | distal | 333 | rs535429298 | 0.000187 | 0.001232 | 4.5284 | intergenic_variant | dELS | ENSG00000110092 | 101,516 | ENSG00000285094 | 44,686 | 44,686 | ENSG00000285094 | dELS | ENSG00000110092 | 101,516 | ENSG00000285094 | 54,027 | 54,027 | ENSG00000285094 | distal | NA | NA | |
11 | 69,540,314 | G | A | true | distal | 333 | rs872440 | 0.9995 | Height | 0.034826 | 16.913 | intergenic_variant | dELS | ENSG00000110092 | 100,841 | ENSG00000285094 | 45,361 | 45,361 | ENSG00000285094 | dELS | ENSG00000110092 | 100,841 | ENSG00000285094 | 54,702 | 54,702 | ENSG00000285094 | distal | NA | NA |
11 | 69,541,749 | G | A | false | distal | 333 | rs567954990 | 0.00022 | 0.003265 | 8.6267 | intergenic_variant | dELS | ENSG00000110092 | 99,406 | ENSG00000285094 | 46,796 | 46,796 | ENSG00000285094 | dELS | ENSG00000110092 | 99,406 | ENSG00000285094 | 56,137 | 56,137 | ENSG00000285094 | distal | NA | NA | |
11 | 69,541,957 | G | A | false | distal | 333 | rs80047735 | 0.000342 | 0.043773 | 32.007 | intergenic_variant | dELS | ENSG00000110092 | 99,198 | ENSG00000285094 | 47,004 | 47,004 | ENSG00000285094 | dELS | ENSG00000110092 | 99,198 | ENSG00000285094 | 56,345 | 56,345 | ENSG00000285094 | distal | NA | NA | |
11 | 69,635,016 | A | T | false | distal | 358 | rs2450254 | 0.004498 | 0.41541 | 62.163 | intergenic_variant | dELS_flank | ENSG00000110092 | 6,139 | ENSG00000110092 | 6,148 | 6,139 | ENSG00000110092 | dELS_flank | ENSG00000110092 | 6,139 | ENSG00000110092 | 6,148 | 6,139 | ENSG00000110092 | distal | NA | NA | |
11 | 69,773,845 | C | T | false | distal | 401 | rs369040887 | 0.002032 | 0.010082 | 11.086 | intron_variant | pELS | ENSG00000075388 | 178 | ENSG00000075388 | 359 | 178 | ENSG00000075388 | pELS | ENSG00000075388 | 1,495 | ENSG00000075388 | 1,318 | 1,318 | ENSG00000075388 | distal | NA | NA | |
11 | 69,774,999 | G | A | false | missense_variant | 302 | rs184198236 | 0.002084 | 0.004566 | 9.2572 | missense_variant | missense_variant | ENSG00000075388 | 0 | ENSG00000075388 | 0 | 0 | ENSG00000075388 | missense_variant | ENSG00000075388 | 341 | ENSG00000075388 | 164 | 164 | ENSG00000075388 | missense_variant | NA | NA | |
11 | 69,819,659 | G | A | false | tss_proximal | 380 | rs7935847 | 0.000578 | 0.15123 | 67.685 | upstream_gene_variant | PLS_flank | ENSG00000186895 | 242 | ENSG00000186895 | 2,108 | 242 | ENSG00000186895 | tss_proximal | ENSG00000186895 | 242 | ENSG00000186895 | 2,108 | 242 | ENSG00000186895 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 70,137,406 | A | C | false | distal | 322 | rs10793009 | 0.007049 | 0.25592 | 48.868 | intron_variant | dELS | ENSG00000131620 | 4,187 | ENSG00000131620 | 5,326 | 4,187 | ENSG00000131620 | dELS | ENSG00000131620 | 4,187 | ENSG00000255143 | 8,108 | 4,187 | ENSG00000131620 | distal | NA | NA | |
11 | 70,251,790 | G | C | false | distal | 338 | rs12275180 | 0.000073 | 0.042046 | 48.36 | intergenic_variant | dELS | ENSG00000131626 | 18,899 | ENSG00000289074 | 17,398 | 17,398 | ENSG00000289074 | dELS | ENSG00000131626 | 18,899 | ENSG00000289074 | 18,735 | 18,735 | ENSG00000289074 | distal | NA | NA | |
11 | 70,348,153 | G | A | false | tss_proximal | 404 | rs61887408 | 0.000335 | 0.024538 | 43.789 | intron_variant | TF_flank | ENSG00000131626 | 35 | ENSG00000131626 | 35 | 35 | ENSG00000131626 | tss_proximal | ENSG00000131626 | 4,401 | ENSG00000131626 | 221 | 221 | ENSG00000131626 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
11 | 70,354,410 | C | T | false | missense_variant | 293 | rs139448605 | 0.0002 | 0.000041 | 27.618 | missense_variant | missense_variant | ENSG00000131626 | 0 | ENSG00000131626 | 0 | 0 | ENSG00000131626 | missense_variant | ENSG00000131626 | 1,293 | ENSG00000131626 | 206 | 206 | ENSG00000131626 | missense_variant | NA | NA | |
11 | 70,624,776 | T | C | false | distal | 398 | rs11236935 | 0.000565 | 0.16766 | 46.113 | intron_variant | pELS | ENSG00000162105 | 35,051 | ENSG00000226627 | 1,664 | 1,664 | ENSG00000226627 | pELS | ENSG00000162105 | 36,987 | ENSG00000226627 | 1,664 | 1,664 | ENSG00000226627 | distal | NA | NA | |
11 | 70,624,777 | G | C | false | distal | 399 | rs61886375 | 0.000163 | 0.24925 | 75.665 | intron_variant | pELS | ENSG00000162105 | 35,050 | ENSG00000226627 | 1,663 | 1,663 | ENSG00000226627 | pELS | ENSG00000162105 | 36,986 | ENSG00000226627 | 1,663 | 1,663 | ENSG00000226627 | distal | NA | NA | |
11 | 70,828,574 | C | T | false | distal | 345 | rs2921331 | 0.000243 | 0.23034 | 86.036 | intron_variant | pELS_flank | ENSG00000162105 | 1,679 | ENSG00000162105 | 1,816 | 1,679 | ENSG00000162105 | pELS_flank | ENSG00000162105 | 1,679 | ENSG00000162105 | 1,816 | 1,679 | ENSG00000162105 | distal | NA | NA | |
11 | 70,861,631 | C | T | false | distal | 399 | rs2921326 | 0.000116 | 0.26418 | 78.946 | intron_variant | pELS | ENSG00000162105 | 33,765 | ENSG00000171671 | 1,158 | 1,158 | ENSG00000171671 | pELS | ENSG00000162105 | 34,736 | ENSG00000171671 | 1,158 | 1,158 | ENSG00000171671 | distal | NA | NA | |
11 | 71,379,842 | T | C | false | distal | 396 | rs1792259 | 0.000302 | 0.31267 | 180.83 | intergenic_variant | CA | ENSG00000172893 | 48,350 | ENSG00000172900 | 2,758 | 2,758 | ENSG00000172900 | CA | ENSG00000172893 | 59,116 | ENSG00000172900 | 18,463 | 18,463 | ENSG00000172900 | distal | NA | NA | |
11 | 71,527,509 | G | C | false | missense_variant | 303 | rs199516478 | 0.000165 | 0.00024 | 4.073 | missense_variant | missense_variant | ENSG00000244411 | 0 | ENSG00000172890 | 3,401 | 0 | ENSG00000244411 | missense_variant | ENSG00000244411 | 241 | ENSG00000254924 | 21,128 | 241 | ENSG00000244411 | missense_variant | NA | NA | |
11 | 71,565,723 | G | A | false | missense_variant | 294 | rs191340120 | 0.000027 | 0.063949 | 61.098 | missense_variant | missense_variant | ENSG00000204572 | 0 | ENSG00000286948 | 114 | 0 | ENSG00000204572 | missense_variant | ENSG00000204572 | 159 | ENSG00000286948 | 114 | 114 | ENSG00000286948 | missense_variant | NA | NA | |
11 | 71,822,818 | T | C | false | distal | 368 | rs60500893 | 0.000031 | 0.001265 | 145.9 | intergenic_variant | intergenic_variant | ENSG00000184276 | 10,381 | ENSG00000214534 | 1,269 | 1,269 | ENSG00000214534 | intergenic_variant | ENSG00000184276 | 10,381 | ENSG00000214534 | 1,269 | 1,269 | ENSG00000214534 | distal | NA | NA | |
11 | 72,014,588 | C | T | false | missense_variant | 291 | rs149184541 | 0.000096 | 0.013634 | 21.186 | missense_variant | missense_variant | ENSG00000137497 | 0 | ENSG00000251143 | 0 | 0 | ENSG00000137497 | missense_variant | ENSG00000137497 | 551 | ENSG00000251143 | 296 | 296 | ENSG00000251143 | missense_variant | NA | NA | |
11 | 72,019,669 | T | A | false | distal | 388 | rs2298456 | 0.00024 | 0.04911 | 672.03 | intron_variant | intron_variant | ENSG00000137497 | 51 | ENSG00000137497 | 51 | 51 | ENSG00000137497 | intron_variant | ENSG00000137497 | 5,632 | ENSG00000137497 | 5,180 | 5,180 | ENSG00000137497 | distal | NA | NA | |
11 | 72,068,622 | A | G | false | splicing | 406 | rs547208 | 0.000184 | 0.05035 | 662.42 | splice_region_variant | splice_region_variant | ENSG00000137497 | 4 | ENSG00000137497 | 390 | 4 | ENSG00000137497 | splice_region_variant | ENSG00000137497 | 1,464 | ENSG00000137497 | 1,440 | 1,440 | ENSG00000137497 | splicing | NA | splicing:b0 | |
11 | 72,139,545 | G | A | false | tss_proximal | 404 | rs116309149 | 0.000061 | 0.025552 | 56.423 | intron_variant | dELS_flank | ENSG00000110203 | 41 | ENSG00000110203 | 41 | 41 | ENSG00000110203 | tss_proximal | ENSG00000110203 | 3,696 | ENSG00000110203 | 294 | 294 | ENSG00000110203 | tss_proximal | tss_prox:b2 | tss_prox:b0 |
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