Figure 2. Distance between CpG and ene’s TSS and effect size in child blood autosomal cis eQTMs.

(A) Distribution of the distance between CpG and ene’s TSS by eQTM type. CpG-Gene pairs were classified in non eQTMs (black); inverse eQTMs (yellow); and positive eQTMs (green). The x-axis represents the distance between the CpG and the ene’s TSS (kb). Non eQTMs median distance: –0.013 kb (interquartile range - IQR = –237; 236). Positive eQTMs median distance: –4.9 kb (IQR = –38; 79). Inverse eQTMs median distance: –0.7 kb (IQR = –29; 54). (B) Effect size versus eCpG-Gene’s TSS distance in eQTMs. The x-axis represents the distance between the eCpG and the eGene’s TSS (kb). The y-axis represents the effect size as the log2 fold change in gene expression produced by a 0.1 increase in DNA methylation (or 10 percentile increase). To improve visualization, a 99% winsorization has been applied to log2 fold change values: values more extreme than 99% percentile have been changed for the 99% quantile value. eQTMs are classified in inverse (yellow) and positive (green). Each eQTM is represented by one dot. The darker the color, the more dots overlapping, and so the higher the number of eQTMs with the same effect size and eCpG-eGene’s TSS distance.

Figure 2—figure supplement 1. Enrichment of eCpGs for gene relative positions.

We selected the subset of 327,931 CpG-Gene pairs where the CpG and the Gene were annotated to the same gene. Enrichment was computed for all eCpGs in this subset, and for inverse and positive eCpGs. Genic regions are classified in distal promoter from 200 to 1500 bp (TSS1500); proximal promoter up to 200 bp (TSS200), 5’ untranslated region (5’UTR); 1st exon; gene body; and 3’ untranslated region (3’UTR). The y-axis represents the odds ratio (OR) of the enrichment. For all gene relative positions, the enrichment was computed against CpG-Gene pairs with CpG and Gene annotated to the same gene that were not eQTMs.