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We identified proximal and distal target genes for 145 genome-wide significant metabolite-associated SNPs by the systematic integration of chromatin interaction (Hi-C), expression quantitative trait loci (eQTL), gene ontology (KEGG), protein classification (The Human Protein Atlas), drug-gene interaction (DGIdb), and literature text mining (PubMed) data. Our approach revealed that ~90% of the metabolite-associated SNPs are eQTLs. These SNPs form 612 distinct eSNP-eGene interactions via chromatin looping across 48 human tissues.



University of Auckland