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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.