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Chunk #27 — Results — Fine-mapping and functional characterization

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Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.
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= 0.0002). A similar result was obtained for promoter haplotypes of the LDHC (lactate dehydrogenase C) gene in which six common variants defined 7 common haplotypes, five of which were successfully cloned and tested. The strongest expression correlation was observed for a SNP located 392 bp upstream of the TSS (15% MAF), and the luciferase data strongly support the functional effect of this variant (p-value = 8.7×10−9; Figure 5B).