Fig. 3

The enhancer, in which candidate functional variant rs72635708 is located, physically interacts with the ERRFI1 promoter in the liver and fibroblasts. The upper panel and middle panel are 4C-like representations of Hi-C data for the liver and IMR90 cell line by anchoring the ERRFI1 promoter. The blue waveform represents the bias-removed interaction frequency, and the magenta dot represents the distance normalized interaction frequency. Regions where the distance normalized interaction frequency exceeds two are connected to the ERRFI1 promoter by blue arcs. The bottom panel is the RefSeq Curated Genes annotation track. The location of candidate functional variant rs72635708 is indicated by a vertical red line