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 | 116,824,222 | A | G | false | tss_proximal | 380 | rs10892035 | 0.000205 | 0.15594 | 231.42 | upstream_gene_variant | TF_flank | ENSG00000110244 | 917 | ENSG00000285513 | 2,680 | 917 | ENSG00000110244 | tss_proximal | ENSG00000110244 | 917 | ENSG00000285513 | 3,576 | 917 | ENSG00000110244 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 116,830,061 | G | C | true | tss_proximal | 378 | rs618354 | 0.99462 | ApoA | 0.24373 | 121 | intron_variant | PLS | ENSG00000110245 | 120 | ENSG00000110245 | 120 | 120 | ENSG00000110245 | tss_proximal | ENSG00000110245 | 145 | ENSG00000110245 | 138 | 138 | ENSG00000110245 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
11 | 116,830,844 | G | A | true | missense_variant | 313 | rs147210663 | 1 | HDLC,TG | 0.000398 | 1.9125 | missense_variant | missense_variant | ENSG00000110245 | 0 | ENSG00000110245 | 0 | 0 | ENSG00000110245 | missense_variant | ENSG00000110245 | 314 | ENSG00000110245 | 921 | 314 | ENSG00000110245 | missense_variant | NA | NA |
11 | 116,834,562 | C | T | true | distal | 346 | rs12721030 | 1 | ApoA,HDLC | 0.193 | 293.16 | intergenic_variant | pELS_flank | ENSG00000118137 | 1,188 | ENSG00000235910 | 1,554 | 1,188 | ENSG00000118137 | pELS_flank | ENSG00000118137 | 3,023 | ENSG00000235910 | 1,554 | 1,554 | ENSG00000235910 | distal | NA | NA |
11 | 116,834,800 | G | A | true | distal | 347 | rs525028 | 0.994815 | TC | 0.29053 | 296.03 | downstream_gene_variant | pELS_flank | ENSG00000118137 | 950 | ENSG00000235910 | 1,316 | 950 | ENSG00000118137 | pELS_flank | ENSG00000118137 | 2,785 | ENSG00000235910 | 1,316 | 1,316 | ENSG00000235910 | distal | NA | NA |
11 | 116,840,252 | A | G | true | distal | 339 | rs613808 | 1 | ApoA | 0.28246 | 316.27 | intron_variant | dELS | ENSG00000118137 | 2,629 | ENSG00000160584 | 3,149 | 2,629 | ENSG00000118137 | dELS | ENSG00000118137 | 2,629 | ENSG00000235910 | 4,085 | 2,629 | ENSG00000118137 | distal | NA | NA |
11 | 116,841,909 | G | A | false | distal | 366 | rs529170795 | 0.000037 | 0.02369 | 154.61 | intron_variant | dELS_flank | ENSG00000160584 | 1,492 | ENSG00000160584 | 1,492 | 1,492 | ENSG00000160584 | dELS_flank | ENSG00000118137 | 4,286 | ENSG00000235910 | 5,742 | 4,286 | ENSG00000118137 | distal | NA | NA | |
11 | 116,841,910 | C | T | false | distal | 366 | rs549298766 | 0.000037 | 0.023688 | 154.6 | intron_variant | dELS_flank | ENSG00000160584 | 1,491 | ENSG00000160584 | 1,491 | 1,491 | ENSG00000160584 | dELS_flank | ENSG00000118137 | 4,287 | ENSG00000235910 | 5,743 | 4,287 | ENSG00000118137 | distal | NA | NA | |
11 | 116,841,911 | C | G | false | distal | 366 | rs562451538 | 0.000037 | 0.023689 | 154.6 | intron_variant | dELS_flank | ENSG00000160584 | 1,490 | ENSG00000160584 | 1,490 | 1,490 | ENSG00000160584 | dELS_flank | ENSG00000118137 | 4,288 | ENSG00000235910 | 5,744 | 4,288 | ENSG00000118137 | distal | NA | NA | |
11 | 116,841,912 | C | T | false | distal | 366 | rs531360508 | 0.000029 | 0.02422 | 152.21 | intron_variant | dELS_flank | ENSG00000160584 | 1,489 | ENSG00000160584 | 1,489 | 1,489 | ENSG00000160584 | dELS_flank | ENSG00000118137 | 4,289 | ENSG00000235910 | 5,745 | 4,289 | ENSG00000118137 | distal | NA | NA | |
11 | 117,001,243 | C | T | false | distal | 362 | rs142848030 | 0.000611 | 0.019697 | 20.496 | intron_variant | dELS_flank | ENSG00000160584 | 44,178 | ENSG00000200537 | 14,653 | 14,653 | ENSG00000200537 | dELS_flank | ENSG00000160584 | 44,198 | ENSG00000200537 | 14,653 | 14,653 | ENSG00000200537 | distal | NA | NA | |
11 | 117,001,941 | A | C | false | distal | 362 | rs76919167 | 0.006857 | 0.031909 | 307.61 | intron_variant | dELS_flank | ENSG00000160584 | 44,876 | ENSG00000200537 | 13,955 | 13,955 | ENSG00000200537 | dELS_flank | ENSG00000160584 | 44,896 | ENSG00000200537 | 13,955 | 13,955 | ENSG00000200537 | distal | NA | NA | |
11 | 117,002,472 | T | C | false | distal | 362 | rs75216082 | 0.00805 | 0.031913 | 307.63 | intron_variant | dELS_flank | ENSG00000160584 | 45,407 | ENSG00000200537 | 13,424 | 13,424 | ENSG00000200537 | dELS_flank | ENSG00000160584 | 45,427 | ENSG00000200537 | 13,424 | 13,424 | ENSG00000200537 | distal | NA | NA | |
11 | 117,081,210 | T | C | false | distal | 338 | rs80068626 | 0.009931 | 0.031943 | 307.34 | intron_variant | dELS | ENSG00000160584 | 16,932 | ENSG00000160584 | 16,932 | 16,932 | ENSG00000160584 | dELS | ENSG00000160584 | 17,217 | ENSG00000160584 | 17,060 | 17,060 | ENSG00000160584 | distal | NA | NA | |
11 | 117,112,300 | G | A | false | distal | 332 | rs113979111 | 0.000109 | 0.10071 | 259.21 | intergenic_variant | dELS | ENSG00000160584 | 13,862 | ENSG00000224077 | 4,129 | 4,129 | ENSG00000224077 | dELS | ENSG00000160584 | 13,862 | ENSG00000225236 | 6,880 | 6,880 | ENSG00000225236 | distal | NA | NA | |
11 | 117,112,840 | G | A | false | distal | 332 | rs111560312 | 0.00011 | 0.1004 | 258.65 | intergenic_variant | dELS | ENSG00000160584 | 14,402 | ENSG00000224077 | 4,669 | 4,669 | ENSG00000224077 | dELS | ENSG00000160584 | 14,402 | ENSG00000225236 | 6,340 | 6,340 | ENSG00000225236 | distal | NA | NA | |
11 | 117,148,048 | T | G | true | distal | 365 | rs539030095 | 1 | ApoA,HDLC,TG | 0.001607 | 13.177 | intron_variant | dELS_flank | ENSG00000168092 | 3,629 | ENSG00000168092 | 3,629 | 3,629 | ENSG00000168092 | dELS_flank | ENSG00000168092 | 3,703 | ENSG00000168092 | 3,665 | 3,665 | ENSG00000168092 | distal | NA | NA |
11 | 117,206,025 | G | A | false | missense_variant | 306 | rs201598301 | 0.004998 | 0.031764 | 296.07 | missense_variant | missense_variant | ENSG00000149591 | 0 | ENSG00000280143 | 0 | 0 | ENSG00000149591 | missense_variant | ENSG00000149591 | 2,880 | ENSG00000280143 | 1,057 | 1,057 | ENSG00000280143 | missense_variant | NA | NA | |
11 | 117,229,878 | A | G | false | 5_prime_UTR_variant | 280 | rs500389 | 0.000343 | 0.38943 | 279.3 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000160613 | 0 | ENSG00000167257 | 2,824 | 0 | ENSG00000160613 | 5_prime_UTR_variant | ENSG00000160613 | 361 | ENSG00000167257 | 2,824 | 361 | ENSG00000160613 | 5_prime_UTR_variant | NA | NA | |
11 | 117,234,734 | A | G | false | tss_proximal | 379 | rs570023291 | 0.000317 | 0.002642 | 19.999 | intron_variant | intron_variant | ENSG00000167257 | 354 | ENSG00000167257 | 354 | 354 | ENSG00000167257 | tss_proximal | ENSG00000167257 | 470 | ENSG00000167257 | 2,030 | 470 | ENSG00000167257 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 117,316,036 | C | T | false | 5_prime_UTR_variant | 282 | rs143346476 | 0.000083 | 0.012359 | 67.34 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000186318 | 0 | ENSG00000186318 | 240 | 0 | ENSG00000186318 | 5_prime_UTR_variant | ENSG00000186318 | 219 | ENSG00000186318 | 240 | 219 | ENSG00000186318 | 5_prime_UTR_variant | NA | NA | |
11 | 117,381,721 | A | G | false | missense_variant | 308 | rs117083334 | 0.000025 | 0.0393 | 43.13 | missense_variant | missense_variant | ENSG00000110274 | 0 | ENSG00000110274 | 0 | 0 | ENSG00000110274 | missense_variant | ENSG00000110274 | 29,930 | ENSG00000110274 | 1,010 | 1,010 | ENSG00000110274 | missense_variant | NA | NA | |
11 | 117,385,668 | C | G | false | non_coding_transcript_exon_variant | 354 | rs560355 | 0.002756 | 0.37744 | 83.032 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110274 | 1,534 | ENSG00000110274 | 0 | 0 | ENSG00000110274 | non_coding_transcript_exon_variant | ENSG00000110274 | 33,877 | ENSG00000110274 | 1,070 | 1,070 | ENSG00000110274 | non_coding_transcript_exon_variant | NA | NA | |
11 | 117,395,596 | C | G | false | missense_variant | 312 | rs2305830 | 0.00048 | 0.30653 | 76.095 | missense_variant | missense_variant | ENSG00000110274 | 0 | ENSG00000110274 | 0 | 0 | ENSG00000110274 | missense_variant | ENSG00000110274 | 43,805 | ENSG00000110274 | 10,998 | 10,998 | ENSG00000110274 | missense_variant | NA | NA | |
11 | 117,397,168 | A | G | true | missense_variant | 314 | rs573455 | 0.99856 | Hb,PP,RBC | 0.46546 | 71.869 | missense_variant | missense_variant | ENSG00000110274 | 0 | ENSG00000110274 | 0 | 0 | ENSG00000110274 | missense_variant | ENSG00000110274 | 45,377 | ENSG00000110274 | 11,848 | 11,848 | ENSG00000110274 | missense_variant | NA | NA |
11 | 117,855,844 | G | T | false | distal | 330 | rs77452664 | 0.000054 | 0.085381 | 20.452 | intron_variant | dELS | ENSG00000137726 | 2,366 | ENSG00000137726 | 2,366 | 2,366 | ENSG00000137726 | dELS | ENSG00000137726 | 13,345 | ENSG00000137726 | 11,736 | 11,736 | ENSG00000137726 | distal | NA | NA | |
11 | 117,857,248 | T | C | false | distal | 330 | rs2845939 | 0.000061 | 0.07629 | 26.111 | intron_variant | dELS | ENSG00000137726 | 962 | ENSG00000137726 | 962 | 962 | ENSG00000137726 | dELS | ENSG00000137726 | 11,941 | ENSG00000137726 | 13,140 | 11,941 | ENSG00000137726 | distal | NA | NA | |
11 | 117,862,844 | G | C | false | distal | 367 | rs7107910 | 0.000061 | 0.37087 | 53.7 | intron_variant | dELS_flank | ENSG00000137726 | 4,557 | ENSG00000137726 | 4,557 | 4,557 | ENSG00000137726 | dELS_flank | ENSG00000137726 | 6,345 | ENSG00000137726 | 13,798 | 6,345 | ENSG00000137726 | distal | NA | NA | |
11 | 117,863,810 | A | G | false | distal | 367 | rs4938443 | 0.000069 | 0.36764 | 53.032 | intron_variant | dELS_flank | ENSG00000137726 | 5,088 | ENSG00000137726 | 5,523 | 5,088 | ENSG00000137726 | dELS_flank | ENSG00000137726 | 5,379 | ENSG00000137726 | 12,832 | 5,379 | ENSG00000137726 | distal | NA | NA | |
11 | 117,863,811 | C | A | false | distal | 367 | rs4938444 | 0.000069 | 0.3676 | 53.031 | intron_variant | dELS_flank | ENSG00000137726 | 5,087 | ENSG00000137726 | 5,524 | 5,087 | ENSG00000137726 | dELS_flank | ENSG00000137726 | 5,378 | ENSG00000137726 | 12,831 | 5,378 | ENSG00000137726 | distal | NA | NA | |
11 | 117,904,080 | C | T | false | missense_variant | 303 | rs200481694 | 0.000115 | 0.000801 | 2.8779 | missense_variant | missense_variant | ENSG00000137747 | 0 | ENSG00000137747 | 6,489 | 0 | ENSG00000137747 | missense_variant | ENSG00000137747 | 25,300 | ENSG00000137747 | 25,316 | 25,300 | ENSG00000137747 | missense_variant | NA | NA | |
11 | 117,905,648 | C | A | false | missense_variant | 303 | rs201556502 | 0.000073 | 0.000402 | 2.8593 | missense_variant | missense_variant | ENSG00000137747 | 0 | ENSG00000137747 | 4,921 | 0 | ENSG00000137747 | missense_variant | ENSG00000137747 | 23,732 | ENSG00000137747 | 23,748 | 23,732 | ENSG00000137747 | missense_variant | NA | NA | |
11 | 117,989,590 | G | A | false | missense_variant | 291 | rs4252303 | 0.000122 | 0.012339 | 19.998 | missense_variant | missense_variant | ENSG00000110324 | 0 | ENSG00000110324 | 0 | 0 | ENSG00000110324 | missense_variant | ENSG00000110324 | 3,195 | ENSG00000110324 | 155 | 155 | ENSG00000110324 | missense_variant | NA | NA | |
11 | 118,017,042 | C | T | false | distal | 356 | rs2512152 | 0.000258 | 0.2886 | 55.56 | intron_variant | dELS_flank | ENSG00000255274 | 1,232 | ENSG00000255274 | 1,232 | 1,232 | ENSG00000255274 | dELS_flank | ENSG00000110324 | 30,647 | ENSG00000110324 | 23,983 | 23,983 | ENSG00000110324 | distal | NA | NA | |
11 | 118,086,916 | G | C | false | 5_prime_UTR_variant | 279 | rs589488 | 0.000079 | 0.072478 | 71.272 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000255274 | 0 | ENSG00000255274 | 122 | 0 | ENSG00000255274 | 5_prime_UTR_variant | ENSG00000255274 | 46 | ENSG00000255274 | 122 | 46 | ENSG00000255274 | 5_prime_UTR_variant | NA | NA | |
11 | 118,094,367 | G | A | false | tss_proximal | 375 | rs1080620 | 0.000686 | 0.34282 | 116.19 | intron_variant | TF_flank | ENSG00000137648 | 448 | ENSG00000137648 | 453 | 448 | ENSG00000137648 | tss_proximal | ENSG00000137648 | 4,675 | ENSG00000137648 | 453 | 453 | ENSG00000137648 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 118,094,390 | A | G | false | tss_proximal | 375 | rs1080619 | 0.000703 | 0.34281 | 116.19 | intron_variant | TF_flank | ENSG00000137648 | 425 | ENSG00000137648 | 430 | 425 | ENSG00000137648 | tss_proximal | ENSG00000137648 | 4,652 | ENSG00000137648 | 430 | 430 | ENSG00000137648 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 118,161,513 | T | C | false | distal | 370 | rs688563 | 0.000737 | 0.49935 | 68.399 | intergenic_variant | intergenic_variant | ENSG00000149575 | 1,292 | ENSG00000149575 | 5,025 | 1,292 | ENSG00000149575 | intergenic_variant | ENSG00000177098 | 8,624 | ENSG00000149575 | 10,145 | 8,624 | ENSG00000177098 | distal | NA | NA | |
11 | 118,161,527 | C | A | false | distal | 370 | rs688587 | 0.00063 | 0.49881 | 68.308 | intergenic_variant | intergenic_variant | ENSG00000149575 | 1,278 | ENSG00000149575 | 5,011 | 1,278 | ENSG00000149575 | intergenic_variant | ENSG00000177098 | 8,638 | ENSG00000149575 | 10,131 | 8,638 | ENSG00000177098 | distal | NA | NA | |
11 | 118,170,387 | G | A | false | missense_variant | 306 | rs10892222 | 0.000384 | 0.033485 | 69.405 | missense_variant | missense_variant | ENSG00000149575 | 1,635 | ENSG00000149575 | 0 | 0 | ENSG00000149575 | missense_variant | ENSG00000149575 | 6,251 | ENSG00000149575 | 1,271 | 1,271 | ENSG00000149575 | missense_variant | NA | NA | |
11 | 118,210,555 | C | T | true | missense_variant | 315 | rs143034248 | 1 | Mono,Neutro,WBC | 0.005205 | 12.315 | missense_variant | missense_variant | ENSG00000160593 | 0 | ENSG00000160593 | 0 | 0 | ENSG00000160593 | missense_variant | ENSG00000160593 | 2,329 | ENSG00000255163 | 1,343 | 1,343 | ENSG00000255163 | missense_variant | NA | NA |
11 | 118,215,285 | G | A | true | tss_proximal | 379 | rs541897906 | 0.93307 | Neutro | 0.001763 | 8.9522 | intron_variant | PLS_flank | ENSG00000160593 | 393 | ENSG00000160593 | 398 | 393 | ENSG00000160593 | tss_proximal | ENSG00000160593 | 393 | ENSG00000160593 | 1,928 | 393 | ENSG00000160593 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
11 | 118,223,646 | A | G | false | tss_proximal | 382 | rs77350377 | 0.000046 | 0.00907 | 20.958 | intron_variant | pELS | ENSG00000160593 | 352 | ENSG00000160593 | 1,294 | 352 | ENSG00000160593 | tss_proximal | ENSG00000160593 | 440 | ENSG00000160593 | 1,347 | 440 | ENSG00000160593 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 118,224,041 | T | C | false | 5_prime_UTR_variant | 283 | rs12275955 | 0.000376 | 0.20734 | 134.9 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000160593 | 0 | ENSG00000160593 | 899 | 0 | ENSG00000160593 | 5_prime_UTR_variant | ENSG00000160593 | 45 | ENSG00000160593 | 952 | 45 | ENSG00000160593 | 5_prime_UTR_variant | NA | NA | |
11 | 118,265,258 | T | G | true | non_coding_transcript_exon_variant | 353 | rs12798851 | 0.99815 | RBC,UA | 0.1324 | 55.591 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000149573 | 721 | ENSG00000280032 | 0 | 0 | ENSG00000280032 | non_coding_transcript_exon_variant | ENSG00000149573 | 721 | ENSG00000280032 | 664 | 664 | ENSG00000280032 | non_coding_transcript_exon_variant | NA | NA |
11 | 118,395,808 | C | T | true | distal | 366 | rs78799967 | 0.954955 | PP | 0.026472 | 25.948 | intron_variant | dELS_flank | ENSG00000110344 | 505 | ENSG00000254873 | 1,286 | 505 | ENSG00000110344 | dELS_flank | ENSG00000167283 | 5,537 | ENSG00000254873 | 5,500 | 5,500 | ENSG00000254873 | distal | NA | NA |
11 | 118,432,186 | T | C | false | 3_prime_UTR_variant | 393 | rs510997 | 0.001792 | 0.12846 | 154.76 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167283 | 0 | ENSG00000255384 | 934 | 0 | ENSG00000167283 | 3_prime_UTR_variant | ENSG00000118058 | 4,269 | ENSG00000255384 | 3,019 | 3,019 | ENSG00000255384 | 3_prime_UTR_variant | NA | NA | |
11 | 118,447,192 | C | T | false | distal | 387 | rs528056 | 0.001989 | 0.098243 | 127.37 | intron_variant | intron_variant | ENSG00000118058 | 432 | ENSG00000118058 | 8,018 | 432 | ENSG00000118058 | intron_variant | ENSG00000118058 | 10,678 | ENSG00000118058 | 9,999 | 9,999 | ENSG00000118058 | distal | NA | NA | |
11 | 118,494,495 | G | C | true | tss_proximal | 404 | rs9332817 | 0.9104 | SHBG | 0.026437 | 42.049 | intron_variant | dELS_flank | ENSG00000118058 | 96 | ENSG00000118058 | 96 | 96 | ENSG00000118058 | tss_proximal | ENSG00000118058 | 1,381 | ENSG00000118058 | 695 | 695 | ENSG00000118058 | tss_proximal | tss_prox:b2 | tss_prox:b0 |
11 | 118,655,873 | G | A | false | missense_variant | 295 | rs148871740 | 0.000371 | 0.007354 | 21.274 | missense_variant | missense_variant | ENSG00000019144 | 0 | ENSG00000019144 | 182 | 0 | ENSG00000019144 | missense_variant | ENSG00000118094 | 23,776 | ENSG00000019144 | 5,271 | 5,271 | ENSG00000019144 | missense_variant | NA | NA | |
11 | 118,791,494 | G | C | false | non_coding_transcript_exon_variant | 353 | rs4508234 | 0.004375 | 0.13077 | 199.62 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110367 | 329 | ENSG00000278376 | 0 | 0 | ENSG00000278376 | non_coding_transcript_exon_variant | ENSG00000110367 | 329 | ENSG00000278376 | 291 | 291 | ENSG00000278376 | non_coding_transcript_exon_variant | NA | NA | |
11 | 118,791,631 | A | T | false | non_coding_transcript_exon_variant | 353 | rs5006102 | 0.004121 | 0.13078 | 199.62 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000110367 | 466 | ENSG00000278376 | 0 | 0 | ENSG00000278376 | non_coding_transcript_exon_variant | ENSG00000110367 | 466 | ENSG00000278376 | 428 | 428 | ENSG00000278376 | non_coding_transcript_exon_variant | NA | NA | |
11 | 118,883,644 | C | A | true | tss_proximal | 380 | rs630923 | 0.989455 | NAP | 0.15178 | 51.931 | upstream_gene_variant | PLS | ENSG00000160683 | 247 | ENSG00000245869 | 2,196 | 247 | ENSG00000160683 | tss_proximal | ENSG00000160683 | 247 | ENSG00000245869 | 4,097 | 247 | ENSG00000160683 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
11 | 118,894,574 | G | A | true | missense_variant | 316 | rs665648 | 0.99944 | AG,NAP | 0.019559 | 13.118 | missense_variant | missense_variant | ENSG00000160683 | 0 | ENSG00000186174 | 5,362 | 0 | ENSG00000160683 | missense_variant | ENSG00000160683 | 10,681 | ENSG00000245869 | 6,831 | 6,831 | ENSG00000245869 | missense_variant | NA | NA |
11 | 118,901,451 | G | A | false | synonymous_variant | 286 | rs61730467 | 0.000932 | 0.025135 | 25.351 | synonymous_variant | synonymous_variant | ENSG00000186174 | 0 | ENSG00000186174 | 689 | 0 | ENSG00000186174 | synonymous_variant | ENSG00000186174 | 9,452 | ENSG00000186174 | 7,173 | 7,173 | ENSG00000186174 | synonymous_variant | NA | NA | |
11 | 118,902,729 | C | T | false | synonymous_variant | 286 | rs35346926 | 0.000085 | 0.027436 | 30.066 | synonymous_variant | synonymous_variant | ENSG00000186174 | 0 | ENSG00000186174 | 44 | 0 | ENSG00000186174 | synonymous_variant | ENSG00000186174 | 8,174 | ENSG00000186174 | 5,895 | 5,895 | ENSG00000186174 | synonymous_variant | NA | NA | |
11 | 119,015,407 | C | T | false | synonymous_variant | 285 | rs10111 | 0.000403 | 0.22796 | 122.65 | synonymous_variant | synonymous_variant | ENSG00000186166 | 0 | ENSG00000186166 | 0 | 0 | ENSG00000186166 | synonymous_variant | ENSG00000118181 | 2,935 | ENSG00000186166 | 1,340 | 1,340 | ENSG00000186166 | synonymous_variant | NA | NA | |
11 | 119,027,660 | T | A | false | missense_variant | 315 | rs34203644 | 0.0002 | 0.006169 | 14.006 | missense_variant | missense_variant | ENSG00000137700 | 0 | ENSG00000137700 | 0 | 0 | ENSG00000137700 | missense_variant | ENSG00000137700 | 3,245 | ENSG00000137700 | 1,066 | 1,066 | ENSG00000137700 | missense_variant | NA | NA | |
11 | 119,030,456 | C | G | false | 5_prime_UTR_variant | 278 | rs2846281 | 0.000201 | 0.22755 | 55.77 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000137700 | 0 | ENSG00000137700 | 0 | 0 | ENSG00000137700 | 5_prime_UTR_variant | ENSG00000137700 | 449 | ENSG00000137700 | 76 | 76 | ENSG00000137700 | 5_prime_UTR_variant | NA | NA | |
11 | 119,122,922 | G | A | false | tss_proximal | 381 | rs1179920 | 0.006201 | 0.40398 | 135.29 | intron_variant | pELS | ENSG00000172273 | 810 | ENSG00000172273 | 1,065 | 810 | ENSG00000172273 | tss_proximal | ENSG00000172273 | 810 | ENSG00000172273 | 1,065 | 810 | ENSG00000172273 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 119,134,422 | C | T | false | missense_variant | 298 | rs100803 | 0.007255 | 0.40398 | 135.27 | missense_variant | missense_variant | ENSG00000172273 | 0 | ENSG00000172273 | 0 | 0 | ENSG00000172273 | missense_variant | ENSG00000172273 | 10,688 | ENSG00000172273 | 1,582 | 1,582 | ENSG00000172273 | missense_variant | NA | NA | |
11 | 119,141,611 | C | G | false | distal | 370 | rs620168 | 0.002251 | 0.47831 | 152.07 | intergenic_variant | intergenic_variant | ENSG00000172273 | 5,551 | ENSG00000172273 | 6,556 | 5,551 | ENSG00000172273 | intergenic_variant | ENSG00000172350 | 7,440 | ENSG00000172273 | 8,771 | 7,440 | ENSG00000172350 | distal | NA | NA | |
11 | 119,171,062 | G | A | false | tss_proximal | 379 | rs541797073 | 0.000098 | 0.002108 | 10.892 | intron_variant | pELS_flank | ENSG00000160703 | 293 | ENSG00000160703 | 293 | 293 | ENSG00000160703 | tss_proximal | ENSG00000160703 | 293 | ENSG00000160703 | 1,914 | 293 | ENSG00000160703 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 119,315,038 | G | A | true | splicing | 405 | rs35929108 | 0.98974 | Plt | 0.079135 | 40.747 | splice_region_variant | splice_region_variant | ENSG00000076706 | 0 | ENSG00000076706 | 0 | 0 | ENSG00000076706 | splice_region_variant | ENSG00000076706 | 2,091 | ENSG00000076706 | 781 | 781 | ENSG00000076706 | splicing | NA | splicing:b0 |
11 | 119,639,934 | A | C | false | missense_variant | 296 | rs7940667 | 0.000962 | 0.07278 | 81.582 | missense_variant | missense_variant | ENSG00000110400 | 0 | ENSG00000254561 | 0 | 0 | ENSG00000110400 | missense_variant | ENSG00000110400 | 88,618 | ENSG00000254561 | 12,599 | 12,599 | ENSG00000254561 | missense_variant | NA | NA | |
11 | 119,701,265 | A | G | false | distal | 361 | rs1110166 | 0.000681 | 0.38842 | 97.958 | intron_variant | dELS_flank | ENSG00000110400 | 22,499 | ENSG00000255247 | 8,654 | 8,654 | ENSG00000255247 | dELS_flank | ENSG00000110400 | 27,287 | ENSG00000255247 | 8,654 | 8,654 | ENSG00000255247 | distal | NA | NA | |
11 | 119,701,341 | G | T | false | distal | 361 | rs3902806 | 0.000603 | 0.39099 | 98.412 | intron_variant | dELS_flank | ENSG00000110400 | 22,575 | ENSG00000255247 | 8,578 | 8,578 | ENSG00000255247 | dELS_flank | ENSG00000110400 | 27,211 | ENSG00000255247 | 8,578 | 8,578 | ENSG00000255247 | distal | NA | NA | |
11 | 119,701,393 | T | C | false | distal | 361 | rs3935405 | 0.000578 | 0.3869 | 98.004 | intron_variant | dELS_flank | ENSG00000110400 | 22,627 | ENSG00000255247 | 8,526 | 8,526 | ENSG00000255247 | dELS_flank | ENSG00000110400 | 27,159 | ENSG00000255247 | 8,526 | 8,526 | ENSG00000255247 | distal | NA | NA | |
11 | 119,701,475 | G | A | false | distal | 361 | rs3935406 | 0.000597 | 0.3909 | 98.423 | intron_variant | dELS_flank | ENSG00000110400 | 22,709 | ENSG00000255247 | 8,444 | 8,444 | ENSG00000255247 | dELS_flank | ENSG00000110400 | 27,077 | ENSG00000255247 | 8,444 | 8,444 | ENSG00000255247 | distal | NA | NA | |
11 | 119,701,731 | G | A | false | distal | 361 | rs885430 | 0.000566 | 0.38686 | 98.016 | intron_variant | dELS_flank | ENSG00000110400 | 22,965 | ENSG00000255247 | 8,188 | 8,188 | ENSG00000255247 | dELS_flank | ENSG00000110400 | 26,821 | ENSG00000255247 | 8,188 | 8,188 | ENSG00000255247 | distal | NA | NA | |
11 | 120,119,184 | A | G | false | tss_proximal | 374 | rs606970 | 0.000792 | 0.49027 | 75.631 | intron_variant | dELS_flank | ENSG00000137699 | 862 | ENSG00000137699 | 316 | 316 | ENSG00000137699 | tss_proximal | ENSG00000137699 | 1,715 | ENSG00000137699 | 316 | 316 | ENSG00000137699 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
11 | 120,128,446 | A | G | false | missense_variant | 300 | rs75068802 | 0.000116 | 0.000159 | 17.123 | missense_variant | missense_variant | ENSG00000137699 | 0 | ENSG00000137699 | 0 | 0 | ENSG00000137699 | missense_variant | ENSG00000137699 | 466 | ENSG00000137699 | 463 | 463 | ENSG00000137699 | missense_variant | NA | NA | |
11 | 120,293,160 | T | C | false | distal | 322 | rs2155810 | 0.004103 | 0.259 | 69.833 | intron_variant | dELS | ENSG00000137709 | 5,104 | ENSG00000137709 | 5,104 | 5,104 | ENSG00000137709 | dELS | ENSG00000137709 | 12,483 | ENSG00000137709 | 7,742 | 7,742 | ENSG00000137709 | distal | NA | NA | |
11 | 120,471,014 | T | C | false | distal | 340 | rs11217879 | 0.003404 | 0.2255 | 152.45 | intron_variant | dELS | ENSG00000196914 | 1,625 | ENSG00000196914 | 1,625 | 1,625 | ENSG00000196914 | dELS | ENSG00000149403 | 40,731 | ENSG00000196914 | 4,960 | 4,960 | ENSG00000196914 | distal | NA | NA | |
11 | 120,530,762 | G | A | false | distal | 360 | rs117385635 | 0.000041 | 0.005384 | 7.5698 | intron_variant | dELS_flank | ENSG00000149403 | 18,874 | ENSG00000149403 | 15,739 | 15,739 | ENSG00000149403 | dELS_flank | ENSG00000149403 | 19,013 | ENSG00000149403 | 18,959 | 18,959 | ENSG00000149403 | distal | NA | NA | |
11 | 120,548,509 | C | T | false | distal | 337 | rs7940779 | 0.000427 | 0.044169 | 33.047 | intron_variant | dELS | ENSG00000149403 | 15,924 | ENSG00000149403 | 15,976 | 15,924 | ENSG00000149403 | dELS | ENSG00000149403 | 15,924 | ENSG00000149403 | 15,976 | 15,924 | ENSG00000149403 | distal | NA | NA | |
11 | 120,548,611 | G | A | false | distal | 337 | rs77998262 | 0.000106 | 0.035864 | 34.448 | intron_variant | dELS | ENSG00000149403 | 15,822 | ENSG00000149403 | 15,874 | 15,822 | ENSG00000149403 | dELS | ENSG00000149403 | 15,822 | ENSG00000149403 | 15,874 | 15,822 | ENSG00000149403 | distal | NA | NA | |
11 | 121,335,578 | T | C | false | distal | 344 | rs73021510 | 0.000096 | 0.003634 | 5.5697 | intergenic_variant | dELS | ENSG00000109929 | 22,167 | ENSG00000232460 | 26,275 | 22,167 | ENSG00000109929 | dELS | ENSG00000109929 | 42,725 | ENSG00000232460 | 27,286 | 27,286 | ENSG00000232460 | distal | NA | NA | |
11 | 121,405,669 | C | T | false | distal | 362 | rs79136270 | 0.000083 | 0.019815 | 26.873 | intergenic_variant | dELS_flank | ENSG00000137642 | 46,644 | ENSG00000289391 | 13,204 | 13,204 | ENSG00000289391 | dELS_flank | ENSG00000137642 | 46,644 | ENSG00000289391 | 13,204 | 13,204 | ENSG00000289391 | distal | NA | NA | |
11 | 121,544,603 | C | T | false | distal | 326 | rs10502262 | 0.000138 | 0.25818 | 40.673 | intron_variant | dELS | ENSG00000137642 | 639 | ENSG00000137642 | 639 | 639 | ENSG00000137642 | dELS | ENSG00000137642 | 22,121 | ENSG00000137642 | 10,438 | 10,438 | ENSG00000137642 | distal | NA | NA | |
11 | 121,612,229 | C | A | false | non_coding_transcript_exon_variant | 354 | rs1784931 | 0.000097 | 0.38042 | 54.881 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000137642 | 506 | ENSG00000137642 | 0 | 0 | ENSG00000137642 | non_coding_transcript_exon_variant | ENSG00000137642 | 21,809 | ENSG00000137642 | 976 | 976 | ENSG00000137642 | non_coding_transcript_exon_variant | NA | NA | |
11 | 122,150,752 | G | A | false | distal | 397 | rs1364757 | 0.000631 | 0.10274 | 52.665 | intron_variant | pELS | ENSG00000259571 | 34,536 | ENSG00000207994 | 1,476 | 1,476 | ENSG00000207994 | pELS | ENSG00000259571 | 34,536 | ENSG00000207994 | 1,555 | 1,555 | ENSG00000207994 | distal | NA | NA | |
11 | 122,776,259 | G | A | false | missense_variant | 312 | rs12790613 | 0.000817 | 0.32596 | 25.516 | missense_variant | missense_variant | ENSG00000154127 | 0 | ENSG00000154127 | 0 | 0 | ENSG00000154127 | missense_variant | ENSG00000109943 | 62,240 | ENSG00000154127 | 624 | 624 | ENSG00000154127 | missense_variant | NA | NA | |
11 | 122,799,682 | G | T | true | distal | 340 | rs873590 | 0.9952 | FEV1FVC | 0.22008 | 34.134 | intron_variant | dELS | ENSG00000154127 | 647 | ENSG00000154127 | 2,417 | 647 | ENSG00000154127 | dELS | ENSG00000109943 | 38,817 | ENSG00000154127 | 4,903 | 4,903 | ENSG00000154127 | distal | NA | NA |
11 | 122,864,660 | C | T | false | missense_variant | 305 | rs75065751 | 0.000058 | 0.000087 | 21.292 | missense_variant | missense_variant | ENSG00000109943 | 0 | ENSG00000109943 | 0 | 0 | ENSG00000109943 | missense_variant | ENSG00000109943 | 2,356 | ENSG00000109943 | 68 | 68 | ENSG00000109943 | missense_variant | NA | NA | |
11 | 123,008,847 | G | A | false | distal | 372 | rs141883261 | 0.00018 | 0.001022 | 2.2799 | intergenic_variant | intergenic_variant | ENSG00000188909 | 27,012 | ENSG00000213184 | 8,790 | 8,790 | ENSG00000213184 | intergenic_variant | ENSG00000188909 | 27,012 | ENSG00000213184 | 8,790 | 8,790 | ENSG00000213184 | distal | NA | NA | |
11 | 123,057,914 | A | G | false | synonymous_variant | 285 | rs4802 | 0.000222 | 0.2286 | 142.94 | synonymous_variant | synonymous_variant | ENSG00000109971 | 0 | ENSG00000109971 | 0 | 0 | ENSG00000109971 | synonymous_variant | ENSG00000109971 | 1,182 | ENSG00000200879 | 246 | 246 | ENSG00000200879 | synonymous_variant | NA | NA | |
11 | 123,149,757 | C | T | false | distal | 362 | rs191738701 | 0.000042 | 0.017144 | 17.924 | intron_variant | dELS_flank | ENSG00000166250 | 45,155 | ENSG00000255342 | 13,380 | 13,380 | ENSG00000255342 | dELS_flank | ENSG00000166250 | 45,490 | ENSG00000255342 | 13,380 | 13,380 | ENSG00000255342 | distal | NA | NA | |
11 | 123,317,157 | G | A | false | distal | 399 | rs11606158 | 0.000126 | 0.23823 | 141.24 | intergenic_variant | pELS | ENSG00000023171 | 41,270 | ENSG00000254823 | 1,816 | 1,816 | ENSG00000254823 | pELS | ENSG00000023171 | 41,270 | ENSG00000254823 | 1,816 | 1,816 | ENSG00000254823 | distal | NA | NA | |
11 | 123,656,361 | C | T | false | distal | 345 | rs1148085 | 0.000526 | 0.23576 | 70.861 | intergenic_variant | pELS_flank | ENSG00000166257 | 1,116 | ENSG00000166257 | 1,767 | 1,116 | ENSG00000166257 | pELS_flank | ENSG00000166257 | 1,116 | ENSG00000166257 | 1,767 | 1,116 | ENSG00000166257 | distal | NA | NA | |
11 | 123,733,311 | C | T | false | distal | 383 | rs192231754 | 0.00007 | 0.005048 | 11.041 | intron_variant | intron_variant | ENSG00000166261 | 2,325 | ENSG00000166261 | 2,325 | 2,325 | ENSG00000166261 | intron_variant | ENSG00000166261 | 8,302 | ENSG00000166261 | 8,348 | 8,302 | ENSG00000166261 | distal | NA | NA | |
11 | 123,823,393 | T | C | false | distal | 360 | rs12790388 | 0.00007 | 0.005123 | 36.431 | intergenic_variant | dELS_flank | ENSG00000196099 | 17,043 | ENSG00000254613 | 15,641 | 15,641 | ENSG00000254613 | dELS_flank | ENSG00000196099 | 17,043 | ENSG00000254613 | 18,482 | 17,043 | ENSG00000196099 | distal | NA | NA | |
11 | 123,883,251 | C | T | false | missense_variant | 309 | rs35551906 | 0.000108 | 0.081511 | 150.44 | missense_variant | missense_variant | ENSG00000204300 | 0 | ENSG00000254430 | 20,729 | 0 | ENSG00000204300 | missense_variant | ENSG00000204300 | 2,381 | ENSG00000254430 | 20,729 | 2,381 | ENSG00000204300 | missense_variant | NA | NA | |
11 | 123,942,849 | A | C | false | tss_proximal | 403 | rs76898395 | 0.000181 | 0.001374 | 174.49 | downstream_gene_variant | pELS_flank | ENSG00000181499 | 17 | ENSG00000226461 | 66,805 | 17 | ENSG00000181499 | tss_proximal | ENSG00000181499 | 988 | ENSG00000226461 | 66,805 | 988 | ENSG00000181499 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
11 | 124,159,766 | A | G | false | distal | 400 | rs4936897 | 0.000027 | 0.38311 | 562.95 | downstream_gene_variant | pELS | ENSG00000110002 | 12,044 | ENSG00000196403 | 409 | 409 | ENSG00000196403 | pELS | ENSG00000197309 | 23,578 | ENSG00000196403 | 1,344 | 1,344 | ENSG00000196403 | distal | NA | NA | |
11 | 124,359,781 | C | A | false | distal | 397 | rs2510430 | 0.000048 | 0.11305 | 275.78 | intergenic_variant | pELS | ENSG00000284680 | 22,612 | ENSG00000255030 | 1,311 | 1,311 | ENSG00000255030 | pELS | ENSG00000284680 | 24,717 | ENSG00000255030 | 1,311 | 1,311 | ENSG00000255030 | distal | NA | NA | |
11 | 124,398,839 | G | T | false | 5_prime_UTR_variant | 280 | rs548081 | 0.00062 | 0.3654 | 471.75 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000284609 | 0 | ENSG00000255048 | 5,394 | 0 | ENSG00000284609 | 5_prime_UTR_variant | ENSG00000284609 | 184 | ENSG00000255048 | 6,262 | 184 | ENSG00000284609 | 5_prime_UTR_variant | NA | NA | |
11 | 124,421,123 | A | C | false | distal | 402 | rs11355206 | 0.000012 | 0.26639 | 280.73 | intergenic_variant | CA-TF | ENSG00000280090 | 2,818 | ENSG00000285561 | 6,330 | 2,818 | ENSG00000280090 | CA-TF | ENSG00000280090 | 3,747 | ENSG00000285561 | 6,330 | 3,747 | ENSG00000280090 | distal | NA | NA | |
11 | 124,425,106 | G | T | false | tss_proximal | 377 | rs57202618 | 0.000136 | 0.1012 | 181.92 | upstream_gene_variant | TF_flank | ENSG00000280090 | 234 | ENSG00000285561 | 10,313 | 234 | ENSG00000280090 | tss_proximal | ENSG00000280090 | 234 | ENSG00000285561 | 10,313 | 234 | ENSG00000280090 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 124,425,739 | A | C | false | tss_proximal | 377 | rs1893704 | 0.000145 | 0.10145 | 181.86 | upstream_gene_variant | upstream_gene_variant | ENSG00000280090 | 867 | ENSG00000285561 | 10,946 | 867 | ENSG00000280090 | tss_proximal | ENSG00000280090 | 867 | ENSG00000285561 | 10,946 | 867 | ENSG00000280090 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
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