Fig. 2
Enhancer-promoter interaction plot for the >1 Mb defined BIN1 LOAD-GWAS region, tagged by SNP rs6733839. (A) Line plot of the interaction frequency for Hi-C reads in the hippocampus, anchoring point at chr2:127,893,000 (5′ end of enhancer). (B) Gene structure and chromHMM track for brain hippocampus middle to show the location of genomic structures including active enhancers (orange), transcription (green), and the transcription start site (red). Proximate active enhancer (type 9) was defined at chr2:127,893,000-127,893,400 (400 bp), 190 bp from the tagging SNP rs6733839 (chr2:127,892,810). Arcs show interactions between the defined enhancer and promoters (Pearson correlation coefficient ≥ 0.7) in the target genes based on DNase I hypersensitive site (DHS)-linkage data. All arcs involving the same proximal DHS are drawn with the same color. (C) Inset shows a magnified…
