Fig. 2.

A differentially methylated region within EGLN1 identified in Andeans with excessive erythrocytosis (EE). As shown, the EE-associated differentially methylated region identified in Andean high-altitude residents (gray vertical bar; Chr1: 229,623,151–229,623,259) is located only 46 bp from the CpG island (Chr1: 229,623,305–229,625,070) that encompasses the EGLN1 promoter and <700 bp from rs12097901 (black vertical bar, Chr1: 229623259), suggesting its potential functional importance. Further supporting the possibility that this differentially methylated region is functionally important, it overlaps with a DNase cluster (dark gray horizontal bar), a promoter-associated H3K4Me3 (white horizontal bar), and several regulatory elements (e.g., transcriptional binding sites; black horizontal lines). The specific regulatory elements shown and their genomic location are noted.