Fig. 4

The regulation and expression associated with DARs in the retina and RPE. a Enriched TF motifs in footprints within DARs. b An example of footprint of OTX2 in MSH3 gene. An OTX2 footprint located at the intron of MSH3 was observed in the normal sample, decreased in the early-stage AMD, and absent from late-stage AMD sample. c Footprint occupancy scores (FOS) for OTX2 motifs in normal, early-stage, and late-stage AMD retinas. Student’s t-test was performed between normal samples and late-stage AMD samples. d Significantly enriched functions of DAR nearby genes from gene set enrichment analysis (GSEA). e The relationship of chromatin accessibility and RNA-Seq measured gene expression in retinas. f The density of differential expression in left vs. right retinas of the AMD patient. P value for Student’s t-test is shown