Figure 3.

Maps of regulatory DNA features for chromosome 3p25.1 (A) and 22q11.23 (B) linkage disequilibrium blocks. All single-nucleotide polymorphisms with an association P-value of <5 × 10⁻⁸ and/or in linkage disequilibrium (r  ² ≥ 0.7) with the lead single-nucleotide polymorphisms (rs62232870 in red; rs4684185 in dark blue; rs7284877 in dark green) are indicated. Single-nucleotide polymorphisms in linkage disequilibrium with the lead single-nucleotide polymorphisms are coloured orange, light blue, and light green. Features associated with regulatory sequence elements are aligned under the associated single-nucleotide polymorphisms track: histone ChIP-seq signals in human left ventricle, OregAnno regulatory element score, vertebrates’ species conservation, DNaseI hypersensitivity, and ChiP-seq signal for chromatin-interacting proteins linked to transcription activity. Vertical blue lines highlight single-nucleotide polymorphisms with a Regulomedb prediction score below 4 (Supplementary material online,).