Fig. 3.

Schematic of non-coding rare variant analyses. Four grouping schematics of rare non-coding variants (MAF <1%). (1) The sliding window approach tiles across the genome at fixed widths, only including variants overlying annotations consistent with enhancers, promoters, and DHS in non-exonic regions. All other approaches attempt to map non-coding putative functional genomic regions with discrete genes as the analytical unit. Overall, they are based on: (2) promoter, enhancer, and DHS annotations near a gene’s transcription start site, (3) co-occurrence of enhancer and DHS annotations with HepG2 gene expression, and (4) H3K27ac marks within Hi-C contact regions mapped to genes. DHS DNase hypersensitivity site, MAF minor allele frequency