Fig. 1

Schematic representation of the procedure to map SNPs to regulatory elements and target genes. The mapping is shown for A the 1D linear genome and B the 3D genome structure constructed at the Hi-C resolution of 10 kbp. Red stars are a SNPs highly associated with a disease at a p-value of ≤5 × 10^− 8. Regulatory elements include transcription factors (TF, blue teardrops) and their binding sites (BS, green sectors), and enhancers (orange rounded rectangles). Each regulatory element is linked to its target genes (G1–3, purple ovals for TFs and G4–6, yellow ovals for enhancers). In (A), regulatory elements are identified within a DNA window of 10 kbp centered on the SNP, whereas in (B), regulatory elements are identified in a DNA fragment forming a physical contact with the fragment containing the SNP