An eQTL is a locus that explains a fraction of the genetic variance of a gene expression phenotype. I.e. the difference in expression is between individuals.


ASE occurs when expression levels vary at the alleles of a heterozygous individual. I.e. the difference in expression of the alleles is a within individual comparison.



Colocalisation: Two independent association signals at the same loci (e.g. one from eQTL analysis and one from disease-association) are consistent with a shared CV.

  1. http://medias01-web.embl.de/Mediasite/Play/7a15ffa352f64224a9cdd990c8bc64e01d