To predict the molecular mechanisms underlying the genetic association signals, and to identify candidate variants for functional follow-up, rs56137030 and variants in LD (r2>0.5; n = 28) were assessed for overlap with eleven different genome-wide functional annotation datasets (Table S3, Material and Methods). Among these 29 variants, six (rs11642015, rs17817497, rs3751812, rs17817964, rs62033408, and rs1421085) were located within candidate intronic regulatory elements, including two (rs3751812 and rs1421085) that were within highly sequence-conserved elements among vertebrates, and two (rs11642015 and rs1421085) that were predicted to have allele-specific binding affinities for different transcription factors. Specifically, we predicted that only the T allele at rs11642015 binds Paired box protein 5 (PAX5) and that the C allele at rs1421085 has a substantially reduced binding affinity for Cut-like homeobox 1 (CUX1; Figure S1).
