Table 1 Enrichments of 14,118 cis-meQTL-CpGs in regulatory genomic elements

From: Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus

Annotation

Ratio meQTL (%)

Ratio non-meQTL (%)

P-value

q-value

OR (95% CI)

Roadmap E071 flanking active TSS

13.2

10.1

1.4 × 10−27

2.7 × 10−25

1.353 (1.282–1.427)

Roadmap E071 weak repr. PolyComb

12.5

10.7

3.4 × 10−10

6.5 × 10−08

1.191 (1.128–1.257)

Roadmap E071 H3K27me3

49.5

46.0

2.1 × 10−14

4.1 × 10−12

1.148 (1.108–1.189)

Roadmap E071 H3K4me1

72.1

69.1

5.5 × 10−13

1.0 × 10−10

1.154 (1.109–1.200)

Roadmap E071 H3K4me3

59.1

56.1

6.9 × 10−12

1.3 × 10−09

1.133 (1.093–1.175)

UCSC CGI shore

31.3

27.6

4.0 × 10−20

7.6 × 10−18

1.198 (1.153–1.245)

Brain intermediate methylation regions

9.8

5.6

1.3 × 10−74

2.4 × 10−72

1.835 (1.724–1.953)

Duke DNase I HS cerebellum

30.9

28.4

8.4 × 10−10

1.6 × 10−07

1.128 (1.085–1.172)

Duke DNase I HS cerebrum frontal

41.7

39.7

4.6 × 10−06

8.7 × 10−04

1.087 (1.049–1.127)

Encode (Tfbs) CTCF

17.3

13.6

8.3 × 10−31

1.6 × 10−28

1.329 (1.267–1.394)

Encode (Tfbs) RAD21

8.4

7.5

5.7 × 10−05

1.1 × 10−02

1.142 (1.071–1.218)

Encode (Tfbs) SMC3

5.2

4.5

1.9 × 10−04

3.7 × 10−02

1.167 (1.076–1.265)

Encode (Tfbs) POLR2A

30.8

29.2

2.1 × 10−04

4.0 × 10−02

1.075 (1.035–1.117)

  1. Co-localization of cis-meQTL-CpGs to genomic annotations of 189 regulatory elements were compared with control-CpG sites matched for β-value (n = 98,826). Significant enrichments after Bonferroni correction (q-value) are shown
  2. OR odds ratio with 95% confidence interval