Table 3 Enrichment of cCREs from ENCODE among low DR regions defined at the 1% and 5% percentiles

From: The sequences of 150,119 genomes in the UK Biobank

cCREsa

Genome (%)

Enrichment (OR (95% CI))

DR 1% percentile

DR 5% percentile

pELS, CTCF-bound

0.53

6.35 (6.04–6.68)

3.49 (3.37–3.61)

PLS, CTCF-bound

0.15

6.37 (6–6.75)

3.34 (3.19–3.49)

PLS

0.05

2.77 (2.53–3.03)

1.9 (1.79–2.03)

pELS

0.53

2.49 (2.39–2.63)

1.96 (1.9–2.02)

DNase H3K4me3, CTCF-bound

0.07

1.92 (1.67–2.19)

1.48 (1.38–1.59)

dELS, CTCF-bound

1.86

1.65 (1.58–1.71)

1.53 (1.5–1.57)

dELS

4.11

1.17 (1.13–1.2)

1.27 (1.25–1.3)

DNase H3K4me3

0.15

1.15 (1.04–1.27)

1.03 (0.974–1.08)

CTCF only

0.47

0.878 (0.83–0.925)

0.96 (0.933–0.987)

  1. The percentage of the genome covered by candidate cis-regulatory elements (cCREs) are indicated for each type of cCRE.
  2. CTCF, CCCTC-binding factor; dELS, distal enhancer-like sequence; OR, odds ratio; pELS, proximal enhancer-like sequence; PLS, promoter-like sequence.
  3. aExons of protein-coding genes found in overlap with cCRE regions were removed.
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