Gene regulation is driven by the interaction of regulatory sequences, commonly categorized
as either enhancers or promoters. Recently, using a modification of the STARR-
seq assay, we identified sets of promoters with enhancer potential. Given that the
majority of genetic variants associated with human diseases and traits (93.7%) have
been found to be located in noncoding DNA, in this follow up analysis we set out to
characterize regulatory variants in ePromoters. Using genetic variants associated with
traits and disease (GWAS catalog), we found a significant enrichment of GWAS variants
associated to Hematological Measurements ePromoters found in HeLa.
We hypothesize that genetic variants within ePromoters are likely to affect transcription
factor (TF) binding. Therefore, we aimed to identify the relevant TFs interacting with these
regulatory regions and look for variants disrupting TF binding. Particularly, we found
variants affecting binding of TFs associated to inflammatory response.
Understanding ePromoters and the regulatory mechanisms that affect their dual function
will help identify the causes of human diseases and traits
