The Broad Institute’s Epigenomics Program seeks a comprehensive understanding of how these regulatory mechanisms are organized, function, and work together to specify the identities of different cell types and tissues, and how their dysregulation causes disease. Maps of these elements and their interactions provide critical insights into human genome regulation, in turn revealing new information about cell function, identity, and proliferation. As the nuances of epigenomic features and functions become clear, researchers are linking instances of epigenomic dysfunction with specific disease states, opening up new diagnostic and therapeutic opportunities.