Figure 4.

Supporting evidence from QTLbase for the regulatory mechanism of rs12041331. rs12041331 is supported by three independent eQTL studies [Bonder et al. (55), Zhernakova et al. (54) and Urmo Võsa et al. (56)] in blood and is associated with PEAR1 gene expression. rs12041331 is also a hQTL linked to a nearby enhancer marker H3K4me1 in naïve CD4+ T cells [Lu Chen et al. (30)] and has been reported as a mQTL affecting a CpG site (cg20948486) in the PEAR1 promoter (highlighted with a blue box) in CD16+ neutrophils [Lu Chen et al. (30)]. H3K27ac, H3K4me1 and H3K4me3 histone modification ChIP-seq profiles, CTCF ChIP-seq profile and DHS clusters for HUVECs and K562 cells are shown (data from ENCODE).