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Chunk #66 — Materials and Methods — Long-range regulatory contacts

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Discovery of novel heart rate-associated loci using the Exome Chip.
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Using significant long-range chromatin interactions as identified by Fit-Hi-C in right ventricle Hi-C data [40 kb resolution (22)], we annotated the potential regulatory SNVs with potential target genes, whose promoter is in contact with the given SNV. Where the 40-kb genomic region containing the SNV had more significant promoter interactions, we show the genes in order of most significant interaction to least significant. For every locus, we took the gene that had the most significant promoter interaction with a regulatory SNV, and using IPA®, we assessed which pathways were affected, and specifically those that were enriched compared to using only genes in LD with HR-SNVs.