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Fig. 1 | Genome Medicine

Fig. 1

From: Identification and characterization of a FOXA2-regulated transcriptional enhancer at a type 2 diabetes intronic locus that controls GCKR expression in liver cells

Fig. 1

rs780094, rs780095, and rs780096 GCKR SNPs reside in a liver-specific enhancer region. a UCSC genome browser image of GCKR in liver-derived HepG2 cells. Normalized ChIP-Seq counts are shown for H3K27ac and H3K4me1 enhancer marks and P300, RXRA, FOXA2, and MAFK TF binding. The GWAS catalog SNPs and reporter elements used in the transcriptional activity assays are depicted above the figure. The TF binding sites located within the 638-bp region around rs780094 are shown in close-up in the insert below the image. b The location of FOXA2 and MAFK consensus motifs in HepG2 cells overlapping rs780094 as defined by Factorbook [54]. Position weight matrix (PWM) modeling shows that rs780094 is likely to disrupt the binding of MAFK, whereas both alleles are predicted to allow binding of FOXA2. c The location of MAFK consensus motifs overlapping rs780095. The disruption of MAFK motif is predicted by PWM modeling

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Genome Medicine

ISSN: 1756-994X

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