Designating regulatory region threshold

Question

[johntimcham]

Hello,

I am attempting to evaluate population-specific allele frequencies of gene variants for a set of genes. Is there any reason to adjust my window beyond the generic +- 5kb that Ensembl uses by default?

Thanks

Answer 1

[Emily]

5kb is the definition given by Sequence Ontology for upstream and downstream. If you're interested in variants in promoter regions, I would look at the promoters annotated by Ensembl.