Although several cases of common variants associated with complex diseases have been identified, there is a growing interest in the effect of rare variants on common diseases (Manolio et al. 2009). Susceptibility to many complex diseases could be attributed to multiple rare variants rather than a single causative polymorphism. To capture these rare variants, it is necessary to sequence entire genomes rather than using array-based genotyping. The April 2010 release from the 1000 Genomes Project contains genotype data from 629 individuals worldwide (The 1000 Genomes Project Consortium 2010). We use this information to assign global MAFs (minor allele frequency) to the variants annotated in each of the categories annotated by RegulomeDB. The variants are classified as “Rare” if the MAF is <1%, “Less Common” if the MAF is between 1 and 5%, and “Common” if the MAF is >5%.
