Table 3 Regulatory SNPs on Hap 3.

SNPs	Postion^a	Location	Proxy of	RegulomeDB rank^b	Probability	Regulatory type	eQTL PHACTR4	eQTL OPRD1	Additional major Haps in CEU
rs10915196	28,785,050	Upstream	rs2236861	4	0.61	CTCF binding site ENSR00000250915
rs10915198	28,792,658	Upstream	rs2236861	3a	0.83	CTCF binding site ENSR00000250916	Yes
rs201193067	28,792,782	Upstream	rs2236861	3a	0.81	Open chromatin ENSR00000921845
rs12133192	28,812,628	Intron 1	rs2236861	2b	0.65	Promoter ENSR00000352105	Yes
rs2236861	28,813,244	Intron 1	rs2236861	4	0.61	Promoter-like ENSR00000921847	Yes
rs2236860	28,814,236	Intron 1	rs2236857	1f	0.55		Yes		4
rs6669447	28,822,849	Intron 1	rs10753331	3a	0.86		Yes		4, 5
rs4654322	28,824,733	Intron 1	rs10753331	1f	0.28		Yes		4, 5
rs419335	28,825,332	Intron 1	rs10753331	1f	0.73		Yes		4, 5
rs2236857	28,835,097	Intron 1	rs2236857	4	0.61		Yes		4
rs2236856	28,835,313	Intron 1	rs2236857	1f	0.55		Yes		4
rs2236855	28,835,487	Intron 1	rs2236857	1b	0.14		Yes		4
rs760589	28,835,953	Intron 1	rs10753331	1f	0.55		Yes		4, 5
rs760588	28,836,056	Intron 1	rs10753331	1f	0.55		Yes		4, 5
rs12089573	28,837,801	Intron 1	rs67244013	5	0.84		Yes	Cb
rs10753331	28,838,070	Intron 1	rs10753331	1d	0.96		Yes		4, 5
rs2298896	28,839,626	Intron 1	rs10753331	2b	0.71		Yes		4, 5
rs509577	28,845,884	Intron 1		4	0.61	Promoter flanking region ENSR00000352114
rs72665504	28,847,410	Intron 1		3a	0.75			Testis
rs67244013	28,848,988	Intron 1	rs67244013	3a	0.87			Cb
rs12749204	28,849,701	Intron 1	rs67244013	2b	0.73			Cb

Cb cerebellum.
SNPs in bold are selecetd SNPs (Table 1).
^aFor indels only the upstream position is shown.
^bThe RegulomeDB probability score is ranging from 0 to 1, with 1 being most likely to be a regulatory variant. The RegulomeDB score represents a model integrating functional genomics features along with continuous values such as ChIP-seq signal, DNase-seq signal among others³⁹.

Search