Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits (original) (raw)
Figure 1
Functional follow-up of the 7q22.3 locus associated with platelet volume and function.
(A) Regional plot of the 7q22.3 locus showing data from the discovery GWA meta-analysis as reported by Soranzo et al. The SNP rs342293 is indicated in purple (_P_=6.75×10−13).Values for r2 are based on the 1000 Genomes Project (Pilot 1, CEU). The data was plotted with LocusZoom v1.1 (http://csg.sph.umich.edu/locuszoom/). (B) Sites of open chromatin marked by FAIRE across the locus in the CHRF-288-11 (MK) and K562 (EB) cell lines (data uploaded as UCSC Genome Browser custom tracks). (C) Site of open chromatin found in MK but not EB cells harboring the common variants rs342293 and rs342294. (D) In silico annotation of transcription factor binding sites at the open chromatin region described in (C).The predicted binding events are shown as transcription factor matrices (MatInspector v8.01). Note that some predicted binding sites are overlapping and not visible.