Recent studies on human genetics, such as The International HapMap Project (1) and 1000 Genomes Project (2), have identified a large number of genetics variants in the human genome. Furthermore, genome-wide association studies (GWAS) (3) and exome sequencing (4,5) are extensively used to globally investigate the relationship between genetic variants and human diseases/traits. By looking at the genomic location of the associated variants detected in GWAS, a large portion (∼88%) of them fall outside of coding regions, which are harder to interpret than the protein-coding variants (6). Therefore, elucidating the molecular function of genetic variants locating in the non-coding regions is critical to our full understanding of genetic disorders.
