Extended Data Fig. 6: Functional characterization nominates rs174466 as a FADS3 CRE-activity altering SNP. | Nature Genetics

Extended Data Fig. 6: Functional characterization nominates rs174466 as a FADS3 CRE-activity altering SNP.

From: Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR–FlowFISH

Extended Data Fig. 6

a, Genomic region surrounding the FADS3 promoter, highlighting tiling MPRA signal (red) and HCR-FlowFISH composite score for FADS3 (orange). rs174466 is denoted, along with all variants in linkage disequilibrium (r2 ≥ 0.2). Variants within an HCR-FlowFISH identified FADS3 CRE are labeled in orange, and variants displaying allelic skew from MPRA are denoted with a red outline. SP2 ChIP-seq signal overlapping rs174466 is included in grey. b, GWAS trait associations with rs174466 shows multiple overlaps with metabolic targets of FADS3. c, MPRA activity for reference and alternate version of the rs174466 shows increased CRE activity on the alternate allele. d, Motif for SP2 highlighting change to alternate allele better matches the canonical motif.

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