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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease

Fig. 1

The candidate functional variant resides in a putative enhancer element. a the relative locations of the 12 SNPs that correlated with the tag-SNPs rs12591300 (or rs10519225) with an r2 greater than 0.8. Four SNPs lie upstream of the promoter of the FGF7 gene, and eight SNPs are in the intron of the FGF7 gene. b The variant rs12905203 resides in a putative enhancer element that binds multiple transcription factors, including AP-1 and histone modification enzymes, and overlaps with H3K4me1 and H3K27ac marks. c Zoomed in view of the variant and surrounding DNA sequence revealed that the altered allele of the variant might affect binding of AP-1 transcription factors

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BMC Medical Genetics

ISSN: 1471-2350

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