Variant report

Variant	rs2791941
Chromosome Location	chr1:179112435-179112436
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	NFIC	chr1:179111861-179113044	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr1:179111908-179112722	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:179111803-179112556	HUVEC	blood vessel:	n/a	n/a
4	TEAD4	chr1:179112151-179112821	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:179110216-179112816	IMR90	lung:	n/a	n/a
6	JUND	chr1:179111902-179112971	SK-N-SH	brain:	n/a	chr1:179112382-179112393
7	MAX	chr1:179111974-179112493	SK-N-SH	brain:	n/a	n/a
8	EP300	chr1:179111966-179112925	A549	lung:	n/a	chr1:179112220-179112229
9	CEBPB	chr1:179112036-179112895	A549	lung:	n/a	n/a
10	CEBPB	chr1:179111947-179112920	HCT-116	colon:	n/a	n/a
11	POLR2A	chr1:179110924-179112736	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr1:179111989-179112933	SK-N-SH	brain:	n/a	chr1:179112220-179112229
13	FOSL2	chr1:179111956-179112941	A549	lung:	n/a	chr1:179112382-179112393
14	SIN3AK20	chr1:179111901-179112843	HCT-116	colon:	n/a	n/a
15	MYC	chr1:179112032-179112850	MCF10A-Er-Src	breast:	n/a	chr1:179112553-179112562
16	FOS	chr1:179111855-179112883	MCF10A-Er-Src	breast:	n/a	chr1:179112382-179112393
17	POLR2A	chr1:179111827-179112513	ProgFib	skin:	n/a	n/a
18	SIN3AK20	chr1:179111840-179112821	HCT-116	colon:	n/a	n/a
19	CEBPB	chr1:179112025-179112877	HCT-116	colon:	n/a	n/a
20	TEAD4	chr1:179111979-179112447	HCT-116	colon:	n/a	n/a
21	POLR2A	chr1:179111900-179112459	Hela-S3	cervix:	n/a	n/a
22	FOSL1	chr1:179111893-179113040	HCT-116	colon:	n/a	chr1:179112382-179112393
23	PBX3	chr1:179111888-179112473	SK-N-SH	brain:	n/a	n/a
24	SP1	chr1:179111948-179112939	A549	lung:	n/a	n/a
25	GATA3	chr1:179111798-179112851	SK-N-SH	brain:	n/a	chr1:179111979-179111988 chr1:179112384-179112393 chr1:179111981-179111988 chr1:179111979-179111989 chr1:179111979-179111988 chr1:179111981-179111988 chr1:179111981-179111988
26	E2F4	chr1:179112041-179112799	MCF10A-Er-Src	breast:	n/a	n/a
27	USF1	chr1:179112088-179112498	SK-N-SH	brain:	n/a	n/a
28	STAT3	chr1:179111872-179112876	MCF10A-Er-Src	breast:	n/a	chr1:179112363-179112374 chr1:179112223-179112230
29	BRCA1	chr1:179111943-179112801	Hela-S3	cervix:	n/a	n/a
30	PBX3	chr1:179111874-179112800	SK-N-SH	brain:	n/a	n/a
31	STAT3	chr1:179112110-179112848	MCF10A-Er-Src	breast:	n/a	chr1:179112363-179112374 chr1:179112223-179112230
32	MAX	chr1:179111875-179112649	HCT-116	colon:	n/a	chr1:179112553-179112562
33	MAX	chr1:179111925-179112837	A549	lung:	n/a	chr1:179112553-179112562
34	RFX5	chr1:179111957-179112821	Hela-S3	cervix:	n/a	n/a
35	JUND	chr1:179111851-179112846	SK-N-SH	brain:	n/a	chr1:179112382-179112393
36	SIN3AK20	chr1:179111900-179112454	SK-N-SH	brain:	n/a	n/a
37	NRF1	chr1:179112030-179112758	Hela-S3	cervix:	n/a	n/a
38	MAX	chr1:179112045-179112452	Hela-S3	cervix:	n/a	n/a
39	SPI1	chr1:179112032-179112438	HL-60	blood:	n/a	chr1:179112221-179112228 chr1:179112217-179112230 chr1:179112220-179112229 chr1:179112218-179112231
40	JUND	chr1:179111895-179112860	HCT-116	colon:	n/a	chr1:179112382-179112393
41	GATA3	chr1:179111857-179112981	SK-N-SH	brain:	n/a	chr1:179111979-179111988 chr1:179112384-179112393 chr1:179111981-179111988 chr1:179111979-179111989 chr1:179111979-179111988 chr1:179111981-179111988 chr1:179111981-179111988
42	RAD21	chr1:179112007-179112802	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:179111798-179112746	HUVEC	blood vessel:	n/a	n/a
44	FOS	chr1:179112075-179112883	MCF10A-Er-Src	breast:	n/a	chr1:179112382-179112393
45	USF2	chr1:179111968-179112708	Hela-S3	cervix:	n/a	n/a
46	EGR1	chr1:179111995-179112606	HCT-116	colon:	n/a	n/a
47	CEBPB	chr1:179112120-179112789	A549	lung:	n/a	n/a
48	FOS	chr1:179112104-179112888	MCF10A-Er-Src	breast:	n/a	chr1:179112382-179112393
49	TEAD4	chr1:179111951-179112987	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr1:179111985-179112939	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179110656..179113275-chr1:179262488..179264481,2	K562	blood:

Variant related genes	Relation type
ABL2	TF binding region
ENSG00000057252	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1078872	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs10913690	0.83[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913692	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs10913695	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913696	0.83[ASN][1000 genomes]
rs10913697	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1173077	0.96[CEU][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs12130276	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1325194	0.83[GIH][hapmap]
rs1325195	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1856967	0.96[EUR][1000 genomes]
rs1856968	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1858551	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2066279	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2087559	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2130576	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2171958	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2171959	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2258217	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2258221	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2486995	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486997	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486998	0.90[ASN][1000 genomes]
rs2493123	0.88[ASN][1000 genomes]
rs2493124	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2636265	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2636266	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs2636274	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636275	0.83[ASN][1000 genomes]
rs2636276	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636277	0.90[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs2636280	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2636281	0.92[EUR][1000 genomes]
rs2636282	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2636287	0.92[CEU][hapmap];0.81[JPT][hapmap];0.98[EUR][1000 genomes]
rs2636290	0.88[GIH][hapmap]
rs2636291	0.90[ASN][1000 genomes]
rs2636293	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2791936	0.91[ASN][1000 genomes]
rs2791940	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2791942	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791943	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791944	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2791945	0.86[ASN][1000 genomes]
rs2793790	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2793793	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793794	0.94[ASN][1000 genomes]
rs2793795	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793796	0.83[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2793797	0.83[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2793798	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2793799	0.96[CEU][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2793803	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2793805	0.83[GIH][hapmap];0.80[TSI][hapmap]
rs2793806	0.90[EUR][1000 genomes]
rs2793810	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2793812	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2793813	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2793816	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2816166	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2816167	0.92[EUR][1000 genomes]
rs2816168	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs2816183	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2816184	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2816185	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2816186	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2816187	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2816189	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2816190	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2816191	0.88[ASN][1000 genomes]
rs2816193	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2816196	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2816197	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816198	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816199	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816201	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2816202	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816203	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2816204	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2816206	0.93[EUR][1000 genomes]
rs2816208	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2816209	0.96[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs2816210	0.89[EUR][1000 genomes]
rs2816211	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2816213	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs2816214	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2816218	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3210839	0.92[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs36122838	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs377785	0.92[EUR][1000 genomes]
rs3813642	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813643	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3818433	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs3829794	0.90[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs411266	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs434283	0.92[EUR][1000 genomes]
rs451088	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs4651012	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4651013	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4652357	0.80[EUR][1000 genomes]
rs6668200	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs7555921	0.84[ASN][1000 genomes]
rs7556011	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs915337	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs9286921	0.90[ASN][1000 genomes]
rs965401	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9662858	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs9726961	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9727252	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9728480	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9729129	0.91[ASN][1000 genomes]
rs9729199	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012667	chr1:179094571-179120280	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1002253	chr1:179094571-179120938	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1001191	chr1:179097246-179120938	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1009493	chr1:179110523-179121079	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2791941	TOR3A	cis	Artery Tibial	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179087800-179113000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:179093400-179117200	Weak transcription	Fetal Stomach	stomach
3	chr1:179099200-179114800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:179099600-179116800	Weak transcription	Thymus	Thymus
5	chr1:179099600-179119400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:179099600-179122600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:179100000-179121000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:179100600-179117200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:179107600-179119800	Weak transcription	Liver	Liver
10	chr1:179108200-179113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:179109600-179112600	Active TSS	NHDF-Ad	bronchial
12	chr1:179109800-179112800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:179110000-179112600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:179110000-179112600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:179110000-179112600	Active TSS	HSMMtube	muscle
16	chr1:179110000-179112600	Active TSS	NH-A	brain
17	chr1:179110000-179112800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:179110000-179112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:179110000-179118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:179110200-179112600	Active TSS	HMEC	breast
21	chr1:179110200-179112600	Active TSS	Osteobl	bone
22	chr1:179110200-179112800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:179110200-179113000	Active TSS	HUVEC	blood vessel
24	chr1:179110200-179113200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:179110200-179116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:179110200-179121400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:179110400-179112600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:179110400-179112800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:179110400-179113200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:179110600-179112800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:179110600-179113800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:179110800-179112800	Active TSS	A549	lung
33	chr1:179110800-179113000	Enhancers	Primary T cells from cord blood	blood
34	chr1:179111000-179112600	Active TSS	NHEK	skin
35	chr1:179111000-179112800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:179111000-179112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:179111000-179118200	Weak transcription	Primary B cells from cord blood	blood
38	chr1:179111200-179112800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:179111400-179116400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:179111400-179117400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:179111400-179118400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:179111400-179121400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:179111400-179121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:179111800-179113000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:179112000-179112800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:179112000-179113200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:179112200-179113000	Weak transcription	HSMM	muscle
48	chr1:179112200-179113400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:179112200-179118800	Weak transcription	Fetal Intestine Large	intestine
50	chr1:179112200-179121800	Weak transcription	Adipose Nuclei	Adipose

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