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Fig. 1 | Genome Biology

Fig. 1

From: FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases

Fig. 1

Example FORGEdb results for rs1421085. For this SNP, there is evidence for eQTL associations (with IRX3 and FTO), chromatin looping (ABC interactions), overlap with significant TF motifs, and DNase I hotspot overlap, as well as overlap with histone mark broadPeaks. The only regulatory dataset that this SNP does not have evidence for is for CATO score (1 point). The resulting FORGEdb score for rs1421085 is therefore 9 = 2 (eQTL) + 2 (ABC) + 1 (TF motif) + 2 (DNase I hotspot) + 2 (histone mark ChIP-seq). Independent experimental analyses by Claussnitzer et al. have demonstrated a regulatory role for this SNP in the control of white vs. beige adipocyte proliferation via IRX3/IRX5 [4]

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