Fig. 1

The two factors of a CAPE score. a The two factors associated with each genetic variant in the classifier: Δ, the disruptive effect on the cognate motif caused by a single-nucleotide variant; S, the binding capability of the neighboring region. b The general idea of the CAPE—integration of two factors (Δ and S) learned from variable enhancer-associated ChIP-seq peaks and DNase to the SVM classifier. Refer to formula 2 in the “Methods” section for the details of parameters