Figure 4.
Associations of the long-range meQTL with mRNA expression (top) and hypothesized models (bottom) of how minor and major alleles of the long-range meQTL affect regional chromatin structure and mRNA expression. The data are plotted by the meQTL genotype. The long-range meQTL is located within a super-enhancer. Depending on its allele, the super-enhancer may interact with either the HLA-DRB1 promoter (minor allele) or the HLA-DQB1 promoter (major allele). When interacting with the HLA-DRB1 promoter (minor allele), it could activate mRNA expression of HLA-DRB1 and two neighboring genes transcribed in the same direction (HLA-DRB6 and HLA-DRB5); note that HLA-DRB6 is a transcribed pseudogene (30). When interacting with the HLA-DQB1 promoter (major allele), it could create a chromatin loop and activates mRNA expression of HLA-DQB1 but not that of the neighboring HLA-DQA1 because that gene is transcribed in the opposite direction.