FIGURE

Fig. 4

ID

ZDB-FIG-230205-35

Publication

Skoric-Milosavljevic et al., 2021 - Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

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Fig. 4

Regulatory activity of RE1 for the 3 major human haplotypes in vitro. A, Genome browser view from the human RE1 region (ie, chr3:55,605,229-55,607,027; GRCh37), depicting the location and characteristics of the single nucleotide polymorphisms (SNPs) within RE1 and the 3 major haplotypes. Provided r² and D-prime are in relationship to the lead SNP rs56219800. B, Luciferase activity were measured in HL1 cells transfected with constructs for RE1 haplotype 1 (n=4), haplotype 2 (n=8), and haplotype 3 (n=4). Values were normalized to the activity of empty pGL4-SCP1-luc. *P=2.6×10⁻⁵, **P=2.6×10⁻⁶ (1-way ANOVA). C, TBX20 motif sequence as identified by HOMER motif analysis showing rs79492708 abolishes a TBX20-binding site.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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