Fig. 1

Data structure behind the investigation. Underlying Hi-C data are displayed as a heat map (the redder the more contacts, as indicated in the color bar), here for a region of chromosome 11 (chr11: 123,050,000–123,550,000, hg19 coordinates), drawn from data published in [30], for IMR90 cell type, at 10 kb-resolution. TADs are underlined with black triangle lines. They are determined using TopDom algorithm [31], which identifies a demarcation between two TADs as a local minimum of the number of contacts in a sliding window of half-size k bins, where k is a tunable parameter (blue diamonds, the full-lined one corresponding to the limit of a TAD). TAD borders are defined as 20 kb-regions from TAD ends inward, and underlined here as small triangles filled in gray. Vertical lines pinpoint disease-associated SNPs located in TAD borders (full line for cancer-associated SNPs, dashed lines for SNPs associated with non-cancer diseases). For each cancer or each non-cancer disease, we investigate the potential over-representation of its associated SNPs in TAD borders. The dashed white arrow indicates increased physical contacts and increased regulatory interactions between adjacent TADs that would possibly appear in a border affected by the presence of an at-risk SNP allele