Variant report

Variant	rs7978856
Chromosome Location	chr12:75784773-75784774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:75784352-75785087	Hela-S3	cervix:	n/a	chr12:75784525-75784534 chr12:75784526-75784535
2	POLR2A	chr12:75784623-75785393	A549	lung:	n/a	n/a
3	POLR2A	chr12:75784705-75785273	A549	lung:	n/a	n/a
4	POLR2A	chr12:75784469-75785385	Hela-S3	cervix:	n/a	n/a
5	TBP	chr12:75784745-75785312	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:75784516-75785328	PANC-1	pancreas:	n/a	n/a
7	YY1	chr12:75784618-75785125	HCT-116	colon:	n/a	n/a
8	FOS	chr12:75784232-75785038	MCF10A-Er-Src	breast:	n/a	chr12:75784524-75784536 chr12:75784525-75784535 chr12:75784525-75784534 chr12:75784801-75784810 chr12:75784526-75784533 chr12:75784526-75784534 chr12:75784524-75784535
9	HCFC1	chr12:75784764-75785191	K562	blood:	n/a	n/a
10	ELF1	chr12:75784500-75785333	MCF-7	breast:	n/a	n/a
11	STAT5A	chr12:75784651-75785353	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:75784571-75785359	HUVEC	blood vessel:	n/a	n/a
13	NRF1	chr12:75784660-75785156	Hela-S3	cervix:	n/a	chr12:75784860-75784874 chr12:75784862-75784871 chr12:75784860-75784871 chr12:75784860-75784871
14	IRF4	chr12:75784688-75785214	GM12878	blood:	n/a	n/a
15	ELF1	chr12:75784634-75785276	GM12878	blood:	n/a	n/a
16	EP300	chr12:75784415-75785291	GM12878	blood:	n/a	chr12:75784526-75784535 chr12:75784525-75784534
17	FOXA2	chr12:75784732-75785438	A549	lung:	n/a	n/a
18	MYC	chr12:75784763-75785162	K562	blood:	n/a	n/a
19	MAX	chr12:75784604-75785427	SK-N-SH	brain:	n/a	n/a
20	RCOR1	chr12:75784589-75785247	K562	blood:	n/a	n/a
21	EP300	chr12:75784456-75785128	SK-N-SH_RA	brain:	n/a	chr12:75784526-75784535 chr12:75784525-75784534
22	FOS	chr12:75784316-75784933	MCF10A-Er-Src	breast:	n/a	chr12:75784524-75784536 chr12:75784525-75784535 chr12:75784525-75784534 chr12:75784801-75784810 chr12:75784526-75784533 chr12:75784526-75784534 chr12:75784524-75784535
23	RAD21	chr12:75784730-75785111	HepG2	liver:	n/a	n/a
24	BRCA1	chr12:75784330-75785425	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr12:75784756-75785364	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:75784495-75785304	GM18951	blood:	n/a	n/a
27	MAZ	chr12:75784427-75785199	Hela-S3	cervix:	n/a	chr12:75784525-75784534 chr12:75784526-75784535
28	SMC3	chr12:75784750-75785419	GM12878	blood:	n/a	n/a
29	NRF1	chr12:75784661-75785069	H1-hESC	embryonic stem cell:	n/a	chr12:75784860-75784874 chr12:75784862-75784871 chr12:75784860-75784871 chr12:75784860-75784871
30	POLR2A	chr12:75784457-75785352	GM15510	blood:	n/a	n/a
31	MAX	chr12:75784403-75785392	Hela-S3	cervix:	n/a	chr12:75784525-75784534 chr12:75784526-75784535
32	ELF1	chr12:75784504-75785402	MCF-7	breast:	n/a	n/a
33	CREB1	chr12:75784691-75785344	A549	lung:	n/a	n/a
34	TBP	chr12:75784583-75785317	GM12878	blood:	n/a	n/a
35	NFATC1	chr12:75784709-75785234	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:75784564-75785320	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr12:75784450-75785308	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:75784711-75785155	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr12:75784417-75785301	PBDE	blood:	n/a	n/a
40	FOXP2	chr12:75784686-75785209	PFSK-1	brain:	n/a	n/a
41	ELF1	chr12:75784436-75785220	A549	lung:	n/a	n/a
42	USF1	chr12:75784694-75784996	SK-N-SH_RA	brain:	n/a	n/a
43	MAZ	chr12:75784348-75785376	GM12878	blood:	n/a	chr12:75784525-75784534 chr12:75784526-75784535
44	POLR2A	chr12:75784657-75785173	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr12:75784144-75785427	HCT-116	colon:	n/a	n/a
46	EP300	chr12:75784389-75785145	SK-N-SH_RA	brain:	n/a	chr12:75784526-75784535 chr12:75784525-75784534
47	MYC	chr12:75784757-75785258	MCF-7	breast:	n/a	n/a
48	TBL1XR1	chr12:75784492-75784937	K562	blood:	n/a	n/a
49	ZNF263	chr12:75784042-75785299	HEK293-T-REx	kidney:	n/a	chr12:75784767-75784788 chr12:75784774-75784783 chr12:75784781-75784790 chr12:75784738-75784759
50	RAD21	chr12:75784013-75785591	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75728018..75728653-chr12:75784583..75785432,2	MCF-7	breast:
2	chr12:75783435..75786287-chr12:76426934..76428474,2	MCF-7	breast:

Variant related genes	Relation type
GLIPR1L2	TF binding region
CAPS2	TF binding region
ENSG00000173401	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10506668	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785189	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10785190	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10879905	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10879906	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10879907	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10879913	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10879916	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879918	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879919	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879922	0.85[EUR][1000 genomes]
rs10879923	0.84[EUR][1000 genomes]
rs11180473	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11180475	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11180483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180488	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180489	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180492	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180495	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180496	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180497	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180498	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180508	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180509	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180510	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180511	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180512	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180513	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180514	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180524	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180526	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180527	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180528	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180533	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180535	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180536	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11180537	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180538	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180540	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11180546	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11180547	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11180548	0.85[EUR][1000 genomes]
rs11829208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11829233	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11831340	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833819	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12099961	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12146845	0.81[EUR][1000 genomes]
rs12366348	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12367329	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12369556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12371293	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12372516	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12422952	0.85[EUR][1000 genomes]
rs12579143	0.81[EUR][1000 genomes]
rs12579161	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581663	0.82[EUR][1000 genomes]
rs12581937	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12582825	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1543946	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17114962	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17114964	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17115087	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17115098	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1875470	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1875471	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1909968	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1909969	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1909970	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1909971	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909972	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909973	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909979	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2102135	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2134141	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2202104	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292009	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292010	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759089	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759090	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3858535	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3923914	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4019363	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4019366	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4019368	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4019400	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4255573	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4394867	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4409878	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4415811	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4533075	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4565939	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4565940	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4583012	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4587767	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4623941	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4882618	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882619	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4882620	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4882624	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4882625	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4882628	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4882629	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4882689	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56829278	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57613088	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58018505	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59282813	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59516478	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6582289	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67705855	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67904412	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133490	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7134260	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7135164	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7135208	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135440	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135971	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7136080	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7136556	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137981	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7296131	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7298541	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7299877	0.84[EUR][1000 genomes]
rs7300071	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7300296	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300345	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7305433	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306050	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7307352	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7311260	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7311359	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315091	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73191008	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73354209	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73364090	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73364096	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73365996	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7486473	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7488050	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954633	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7957713	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7958067	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963723	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963834	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7963977	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7964070	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7964900	0.83[EUR][1000 genomes]
rs7965228	0.83[EUR][1000 genomes]
rs7966341	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7966763	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967014	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967699	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7967731	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7969930	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7970458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972809	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7973632	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7974011	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7975447	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9668552	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3374621	chr12:75783234-75806310	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs7978856	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs7978856	GLIPR1L2	cis	Thyroid	GTEx
rs7978856	GLIPR1L2	cis	lung	GTEx
rs7978856	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs7978856	RP11-585P4.5	cis	Nerve Tibial	GTEx
rs7978856	RP11-585P4.5	cis	Esophagus Muscularis	GTEx
rs7978856	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs7978856	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs7978856	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs7978856	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs7978856	GLIPR1L2	cis	Nerve Tibial	GTEx
rs7978856	GLIPR1L2	cis	Artery Tibial	GTEx
rs7978856	RP11-585P4.5	cis	Artery Tibial	GTEx
rs7978856	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs7978856	GLIPR1L2	cis	Artery Aorta	GTEx
rs7978856	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs7978856	RP11-585P4.5	cis	Thyroid	GTEx
rs7978856	GLIPR1L2	cis	Stomach	GTEx
rs7978856	GLIPR1	cis	Whole Blood	GTEx
rs7978856	RP11-585P4.5	cis	Muscle Skeletal	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75772200-75785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:75776600-75784800	Weak transcription	Gastric	stomach
3	chr12:75782600-75784800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:75782600-75785600	Active TSS	Aorta	Aorta
5	chr12:75782800-75786200	Active TSS	Rectal Smooth Muscle	rectum
6	chr12:75783000-75785800	Active TSS	Right Atrium	heart
7	chr12:75783200-75785800	Active TSS	Colonic Mucosa	Colon
8	chr12:75783400-75785600	Active TSS	Brain Cingulate Gyrus	brain
9	chr12:75783400-75785600	Active TSS	Ovary	ovary
10	chr12:75783400-75785600	Active TSS	Psoas Muscle	Psoas
11	chr12:75783400-75785600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr12:75783400-75785600	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:75783400-75785800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:75783400-75785800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:75783600-75784800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:75783600-75785000	Active TSS	HMEC	breast
17	chr12:75783600-75785400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:75783600-75785600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:75783600-75785600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:75783600-75785600	Active TSS	Fetal Lung	lung
21	chr12:75783600-75785600	Active TSS	HSMM	muscle
22	chr12:75783600-75785600	Active TSS	HSMMtube	muscle
23	chr12:75783600-75785800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:75783600-75785800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:75783600-75785800	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:75783800-75784800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:75783800-75785000	Active TSS	GM12878-XiMat	blood
28	chr12:75783800-75785600	Active TSS	Brain Substantia Nigra	brain
29	chr12:75784000-75784800	Enhancers	Primary T cells from cord blood	blood
30	chr12:75784000-75785200	Active TSS	Osteobl	bone
31	chr12:75784000-75785400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:75784000-75785600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:75784000-75785600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:75784000-75785600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:75784000-75785600	Active TSS	Brain Anterior Caudate	brain
36	chr12:75784000-75785600	Active TSS	Fetal Kidney	kidney
37	chr12:75784000-75785600	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:75784000-75785800	Active TSS	Brain Angular Gyrus	brain
39	chr12:75784000-75786000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:75784200-75785400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:75784200-75785400	Active TSS	Stomach Mucosa	stomach
42	chr12:75784200-75785400	Active TSS	Thymus	Thymus
43	chr12:75784200-75785400	Active TSS	A549	lung
44	chr12:75784200-75785600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr12:75784200-75785600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:75784200-75785600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:75784200-75785600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:75784200-75785600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:75784200-75785600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:75784200-75785600	Active TSS	Brain Germinal Matrix	brain

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