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Fig. 1 | Lipids in Health and Disease

Fig. 1

From: Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels

Fig. 1

Functional effect of rs4846913 and rs2144300 at GALNT2 in HepG2 cells. a UCSC Genome browser view of rs4846913 (orange) and associated GWAS-SNPs (cyan). The transcription factor ChIP-seq track from ENCODE shows the TF binding sites overlapping the different SNPs. The embedded regional LD plot (SNAP tool [11]) represents the genetic region around rs4849613 with SNPs in high LD (r2 > 0.8). The GWAS-SNPs associated are indicated in cyan. b EMSA for the C- and A-alleles of rs4846913. Lanes 3 and 4 represent a competition assay where a 100-fold molar excess of unlabeled probes was added to biotinylated probes and HepG2 nuclear protein extract. c Dual luciferase assay testing the enhancer activity of two constructs with the C- and A-alleles of rs4846913 and the C- and T alleles of rs2144300. * P < 0,001

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