Figure 4.

Functional annotation results point to ETS2 as a causal gene for the chr21q22 association

(A) Summary of the epigenetic marks found at rs2836882 in chr21q22.

(B) Circular view of the chromatic interaction between rs2836882 in chr21q22 and the ETS2 promoter obtained from Capture Hi-C data. This interaction is observed in several cell types: endothelial precursors, megakaryocytes, monocytes, M0 macrophages, M1 macrophages, M2 macrophages, neutrophils, and CD34+ cells. The red color of the line indicates a strong confidence for this interaction.

(C) Violin plot representing the difference in expression levels of ETS2 depending on rs2836882 genotypes obtained from GTEx project.