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Table 4 Summary of disease variants residing within regulatory regions in seven types of human genomic regions

From: Disease-associated variants in different categories of disease located in distinct regulatory elements

  #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
  1. DVPM: the average number of disease variants per one million base pairs regulatory regions.