We performed a comprehensive analysis of genetic effects on gene expression variation in human lymphoblastoid cell lines, presenting evidence for cis regulatory effects of 1348 genes and their biological properties by adopting a “candidate region approach”. The limited power of our analysis means that we detect only a subset of the existing functional regulatory effects in these populations. In addition, as we have only interrogated a single cell type, variation manifested only in other cell types is not represented here. These two facts argue for an abundance of cis regulatory variants segregating in human populations, some of which may be responsible for higher-order phenotypic variation and susceptibility to disease.
