Fig. 3

mQTL enrichment in diseases and traits. a Contribution of mQTL identified at each time point to variance of WTCCC common diseases bipolar disorder (BD), coronary artery disease (CAD), Crohns disease (CD), hypertension (HT), rheumatoid arthritis (RA), type 1 diabetes (T1D) and type 2 diabetes (T2D). Red dots represent the component of a trait’s genetic variance attributable to cis-acting mQTL SNPs with significance levels of p < 1 × 10⁻¹⁴, on the liability scale, excluding chromosome 6. Black points depict the point estimates of SNP heritability estimates under the null hypotheses of SNPs coming from genic regions (left plot) or SNPs with the same proportion of genic features as the mQTLs (right plot). P values relate to the proportion of the null estimates that surpass the mQTL estimates. b Enrichment analysis of cis-acting mQTL SNPs with significance levels of p < 1 × 10⁻¹⁴ in large-scale GWAS summary statistics for 33 complex traits. The solid horizontal line denotes empirical p value of 0.05 and the dotted line shows the threshold after correcting for multiple testing. Red bars are based on a null of genic SNPs, blue bars on a null of mQTL-matched SNPs. HDL = high-density lipoprotein cholesterol, LDL = low-density lipoprotein cholesterol, BMD = bone mineral density, FN = femoral neck, LS = lumbar spine, BMI = body mass index, AMD = age-related macular degeneration and ALS = amyotrophic lateral sclerosis