Annotation of functional variation in personal genomes using RegulomeDB

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Figure 4.
Figure 4.

TNFAIP3-associated SNV. (A) RegulomeDB results for rs117480515 which is likely a functional variant associated with systemic lupus erythematosus. (B) This SNV was the most likely to be functional in the associated region but might be missed in a standard study because it lies >20 kb downstream from its target. (C) An enlargement of the region around rs117480515 (red line) shows the overlap with a large number of functional elements (NFKB, purple; BCL, light blue; and DNase, green) as well as the motif for BCL.

This Article

  1. Genome Res. 22: 1790-1797

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