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Chunk #12 — Methods — eSNP Association with BMI

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Obesity-associated variants within FTO form long-range functional connections with IRX3.
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We downloaded genome-wide association data from the Genetic Investigation of Anthropometric Traits45 (GIANT) consortium website (http://www.broadinstitute.org/collaboration/giant/index.php/GIANT_consortium_data_files#BMI_.28download_GZIP.29). We extracted the p-values for those SNPs in the locus with significant association (p<0.05) with IRX3 or FTO expression in adipose or cerebellum. We plotted the distribution of association p-values for these expression-associated SNPs (eSNPs). rs9930506 is highly associated with BMI (p=1.41e-53, N=123541). Recombination rates are estimated from the International HapMap Project.