to explain a greater proportion of the heritability for some disorders than variants in coding regions [5]. This review focuses on the identification and interpretation of disease-associated variants that affect enhancer function. We consider the latest approaches for evaluating enhancer variants and identifying their gene targets, and highlight successful cases in which risk variants have been shown to alter gene expression by disrupting enhancer function. In addition, we discuss the remaining challenges to delineating the impact of noncoding variants, such as the identification of enhancer activity, validation of causal variants and identification of responsible genes. Future efforts to surmount these challenges should help to remove the barrier between the discovery of disease associations and the translation of this knowledge for improved diagnosis and treatment of many common diseases.
