#Disease Variants within upstream | #Disease Variants within 5'UTR | #Disease Variants within coding exons | #Disease Variants within introns | #Disease Variants within 3'UTR | #Disease Variants within downstrea m | #Disease Variants within intergenic region | Total (unique variants) | DVPM | |
---|---|---|---|---|---|---|---|---|---|
Transcription promoter | 666 | 589 | 1,675 | 480 | 555 | 691 | 7 | 1,812 | 472 |
Methylation region | 1,378 | 1,062 | 4,113 | 1,440 | 1,196 | 1,317 | 48 | 4,671 | 239 |
Transcription insulator | 1,876 | 1,472 | 4,637 | 1,976 | 1,393 | 1,790 | 279 | 5,886 | 72 |
Open chromatin regions (DNase I hypersensitiv e sites) | 6,661 | 5,776 | 20,306 | 9,580 | 7,334 | 7,336 | 1214 | 26,188 | 68 |
DNA binding sites of protein | 6,360 | 5,122 | 17,211 | 9,043 | 6,181 | 7,016 | 1143 | 22,915 | 60 |
Chromatin physical interaction regions | 13,775 | 13,040 | 49,007 | 26,125 | 19,005 | 17,952 | 3447 | 65,309 | 51 |
Open chromatin regions by FAIRE-seq | 5,612 | 5,013 | 16,922 | 8,779 | 6,434 | 6,261 | 1203 | 22,470 | 50 |
Histone modification region | 16,862 | 16,783 | 69,303 | 35,889 | 24,566 | 22,090 | 6196 | 93,212 | 33 |
Transcription enhancer | 30 | 1 | 0 | 129 | 1 | 12 | 71 | 219 | 18 |