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Chunk #15 — USE EXAMPLE

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HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease.
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Go to the bottom of the detail page for rs864643. Note that the SNP has been correlated with MOBP expression in two brain tissues (29), MPRL15 expression in blood (39) and serum ratio of allantoin to quinate (40); all three of these studies were curated by GRASP and found by cross-referencing this SNP to its database (35,36) (Figure 3). Looking at studies individually curated by HaploReg, notice that the SNP has been associated with differential expression of a single exon of RPSA in lymphoblastoid cells by the GEUVADIS study (23). In the motif table, note that the SNP changes the match to the p300 PWM, ATTAYRWCA, with the alternate allele changing a match to the fourth A to a G. Hover over the ‘p300_disc’ ID to see that the motif was discovered using the Trawler algorithm on a p300 ChIP-Seq experiment in HeLa cells from the ENCODE dataset (37).