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Chunk #21 — eQTL analysis of breast cancer risk loci — Trans- analysis

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Integrative eQTL-based analyses reveal the biology of breast cancer risk loci.
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To validate the computational results, we sought experimental evidence by chromosome conformation capture (3C) to evaluate physical interactions between the risk loci and the promoters of the TFs. Since the MYC locus has already been shown to interact with the 8q24 risk locus (Ahmadiyeh et al., 2010; Wright et al., 2010; Yochum et al., 2010), we tested for interactions between the ESR1 and KLF4 promoters and the 6q25 and 9q31 risk regions, respectively (Methods). In estradiol stimulated MCF-7 cells, we observed sequence verified interaction products for 6q25 and 9q31 at distances of 189 kb and 644 kb, respectively (Figure 4).