Extended Data Figure 7 : Regulation at the RTBDN–MAST1 locus

Extended Data Figure 7 | Regulation at the RTBDN–MAST1 locus

Genome browser view of the RTBDN–MAST1 locus, which harbors three GWAS-reported variants associated with red blood cell traits—rs7255045, rs11672387, and rs2072597—as well as 60 additional variants in high linkage disequilibrium (R² > 0.7). Ten of these variants overlap cCREs active in K562 (designated as RBC cCREs). Genes linked to these RBC cCREs are shown in black. Chromatin interaction data from RNAPII ChIA-PET (red), CTCF ChIA-PET (blue), and intact Hi-C (green), are shown with interactions involving RBC cCREs highlighted by thicker lines. Functional validation via CRISPRi-FlowFISH is shown in purple, with bars denoting repression and arrows indicating activation. Biochemical signals from K562 cells are displayed: DNase-seq (light green), H3K4me3 (red), H3K27ac (yellow), CTCF (blue), RNA-seq (dark green), along with cCRE classifications.