Figure 1: Generation and validation of a genome-wide cardiac enhancer catalogue.

Integrative analysis of >35 epigenomic data sets from ex vivo human and mouse heart tissue resulted in a catalogue of >80,000 putative human heart enhancers. We demonstrate the utility of this catalogue for the discovery of enhancers near heart disease-associated genes by characterizing the in vivo activity patterns of 22 novel cardiovascular enhancers in transgenic mouse assays. We also show the functional importance of enhancers by deleting two cardiac enhancers, which resulted in reduced gene expression and impaired cardiac function.