Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13

Table 2 SNP rs11170516 is likely to affect protein binding of ESR1 and interact with gene SP1 based on RegulomeDB annotation

Method	Location	Bound protein/affected gene	Cell type	Additional info	Reference
ChIP-seq	chr12:53752659..53752963	ESR1	ECC-1	estradiol_10nm	ENCODE^a
eQTL	chr12:53752691..53752692	SP1	Monocytes	cis	20,502,693

ISSN: 1755-8794