Annotation of functional variation in personal genomes using RegulomeDB

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Figure 1.
Figure 1.

A SNV (rs9261424) overlapping many regulatory features. (A) This SNV falls within peak regions for many ChIP-seq factors as well as DNase-seq peaks from multiple cell lines. (B) The same SNV overlaps a motif match to the NFKB motif and has been shown to alter binding. The signal tracks represent ChIP-seq peaks of NFKB at the SNV site for three individuals: homozygous to reference allele (G), heterozygous, and homozygous to alternate allele (C) (Kasowski et al. 2010).

This Article

  1. Genome Res. 22: 1790-1797

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