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Chunk #57 — Common variants associated with human disease and phenotypes

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An integrated encyclopedia of DNA elements in the human genome.
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detected there could be a proxy for binding of a more relevant factor, such as GATA3, in T-cells. Genetic variants in this region also affect expression levels of PTGER477, encoding the prostaglandin receptor EP4. Thus, the ENCODE data reinforce the hypothesis that genetic variants in 5p13.1 modulate the expression of flanking genes, and furthermore provide the specific hypothesis that the variants affect occupancy of a GATA factor in an allele-specific manner, thereby influencing susceptibility to Crohn’s disease.