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. Author manuscript; available in PMC: 2017 Jun 2.
Published in final edited form as: Cell. 2016 Jun 2;165(6):1530–1545. doi: 10.1016/j.cell.2016.04.048

Figure 4. Delineating the genomic context of the MFVs rs737092, rs4490057, rs1175550, and rs1546723.

Figure 4

(A–D) Location of the variants rs737092 (A), rs4490057 (B), rs1175550 (C) and rs1546723 (D) are shown in context with the neighboring genes. Nucleosome depleted regions (NDRs), H3K27ac histone modifications, and transcription factor occupancy profiles for LDB1, TAL1, GATA1, NFE2 and KLF1 are displayed for HEPs in normalized reads per million. Predicted TF binding sites are highlighted proximal to the MFV. (A,D) Interactions between a promoter and HindIII fragment identified from promoter capture Hi-C in CD34+ hematopoietic stem and progenitor cells (HSPCs) are shown. (E–H) Activity scores for minor and major alleles of rs737092 (E), rs4490057 (F), rs1175550 (G) and rs1546723 (H) in the MPRA for the early (K562) and late (K562+GATA1) erythroid progenitor models are shown as boxplots. Position of the variant in the reporter construct is indicated. *False discovery rate (FDR) < 1%. (I) Correlations between max MPRA fold change estimates for allelic skew in K562 cells and individual luciferase reporter fold change estimates.