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Publication: Han et al., 2026 - Multiple susceptibility enhancer variants increasing ADD3 expression predisposes to biliary atresia risk
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FIGURE 1

Genomic Map and Enhancer variants within the ADD3 Locus. (A) Genomic locations of 28 BA-associated SNPs within predicted enhancer regions, marked by DNase I hypersensitivity, H3K4me1, and H3K27ac, and overlapping with predicted transcription factor binding sites. (B) Distribution of 28 BA-associated SNPs across 10 predicted enhancer segments. (C) Allele-specific luciferase reporter assays for 10 enhance elements. Eight elements demonstrated enhancer activity compared to promoter-only control, with four showing significant allelic differences (t-test). Error bars represent standard deviation (SD) of four biological replicates. (D) Flowchart outlining the approach for identifying causal variants among 154 BA-associated SNPs.

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