Figure 1: cis-meQTL structural characteristics.
From: Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue
(a) Distribution of CpG probes and corresponding cis-meQTL numbers and proportions in gene and non-gene regions. meQTLs were detected based on EAGLE lung normal tissue samples (n=210). (b) Distribution of CpG probes and corresponding cis-meQTL numbers and proportions in CpG islands (CGIs), shores (<2 kb from the boundary of CGI), shelves (2–4 kb from the boundary of CGI) and the remaining region or ‘open sea’. (c) The strongest cis-association is between SNP rs10090179 and CpG probe cg19504605. P=1.5 × 10−73, t-test. The SNP explains 79.8% of the phenotypic variance. The box plots show the distribution of the methylation levels in each genotype category with error bars representing the 25 and 75% quantiles. (d,e) The x coordinate is the average s.d. of methylation levels for CpG probes in each category. The y coordinate is the proportion of CpG probes detected with cis-meQTLs. The proportion of methylation probes detected with cis-meQTLs varied across categories, ranging from 4.0% for CGIs in 1st exons to 15.7% for south shores in non-gene regions.
