Variant report

Variant	rs3806351
Chromosome Location	chr1:193090029-193090030
allele	A/C/G/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	POLR2A	chr1:193089868-193092218	GM12891	blood:	n/a	n/a
2	MAZ	chr1:193089945-193092145	K562	blood:	n/a	chr1:193090815-193090830
3	POLR2A	chr1:193089736-193091785	K562	blood:	n/a	n/a
4	CUX1	chr1:193089453-193090304	K562	blood:	n/a	n/a
5	RCOR1	chr1:193089823-193092061	K562	blood:	n/a	n/a
6	BHLHE40	chr1:193089597-193092059	K562	blood:	n/a	chr1:193091108-193091124 chr1:193091104-193091120 chr1:193091105-193091121
7	SMARCB1	chr1:193089264-193092304	K562	blood:	n/a	n/a
8	UBTF	chr1:193089702-193092137	K562	blood:	n/a	n/a
9	EP300	chr1:193090014-193090234	K562	blood:	n/a	n/a
10	EP300	chr1:193089302-193090378	K562	blood:	n/a	n/a
11	TEAD4	chr1:193089533-193090367	K562	blood:	n/a	n/a
12	TBP	chr1:193089659-193092118	K562	blood:	n/a	n/a
13	IRF1	chr1:193089630-193092084	K562	blood:	n/a	chr1:193089748-193089761 chr1:193089745-193089759 chr1:193089749-193089759 chr1:193089748-193089761 chr1:193089748-193089761 chr1:193089748-193089759 chr1:193089748-193089762 chr1:193089748-193089760 chr1:193091849-193091859
14	MAFK	chr1:193089654-193090534	K562	blood:	n/a	n/a
15	MXI1	chr1:193089883-193090297	K562	blood:	n/a	n/a
16	ZNF143	chr1:193090026-193090413	K562	blood:	n/a	n/a
17	POLR2A	chr1:193089639-193092266	K562	blood:	n/a	n/a
18	POLR2A	chr1:193089715-193092101	K562	blood:	n/a	n/a
19	ZNF384	chr1:193089751-193091987	K562	blood:	n/a	chr1:193090357-193090365
20	MYC	chr1:193089772-193091773	K562	blood:	n/a	chr1:193090815-193090830
21	CTCF	chr1:193089834-193092415	A549	lung:	n/a	chr1:193091107-193091120 chr1:193091047-193091065 chr1:193091048-193091064 chr1:193091049-193091062 chr1:193091053-193091062
22	POLR2A	chr1:193089813-193092679	K562	blood:	n/a	n/a
23	HEY1	chr1:193089861-193091626	K562	blood:	n/a	chr1:193091108-193091123
24	RCOR1	chr1:193089645-193091876	K562	blood:	n/a	n/a
25	IRF1	chr1:193089623-193091943	K562	blood:	n/a	chr1:193089748-193089761 chr1:193089745-193089759 chr1:193089749-193089759 chr1:193089748-193089761 chr1:193089748-193089761 chr1:193089748-193089759 chr1:193089748-193089762 chr1:193089748-193089760 chr1:193091849-193091859
26	TBL1XR1	chr1:193089918-193090328	K562	blood:	n/a	n/a
27	POLR2A	chr1:193089980-193091662	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr1:193089940-193090371	K562	blood:	n/a	n/a
29	POLR2A	chr1:193089681-193091931	K562	blood:	n/a	n/a
30	HCFC1	chr1:193089591-193092508	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:193089924-193090510	K562	blood:	n/a	n/a
32	GTF2F1	chr1:193089966-193090166	K562	blood:	n/a	n/a
33	ARID3A	chr1:193089184-193091636	K562	blood:	n/a	n/a
34	POLR2A	chr1:193089783-193090349	K562	blood:	n/a	n/a
35	POLR2A	chr1:193089774-193091909	K562	blood:	n/a	n/a
36	MYC	chr1:193089840-193092186	K562	blood:	n/a	chr1:193090815-193090830
37	POLR2A	chr1:193090005-193091854	Raji	blood:	n/a	n/a
38	JUN	chr1:193089482-193090401	K562	blood:	n/a	n/a
39	POLR2A	chr1:193089956-193090165	K562	blood:	n/a	n/a
40	POLR2A	chr1:193089861-193090059	MCF10A-Er-Src	breast:	n/a	n/a
41	JUND	chr1:193089609-193092386	K562	blood:	n/a	chr1:193092221-193092230
42	MYC	chr1:193088542-193091867	K562	blood:	n/a	chr1:193090815-193090830

No.	Distal block	Cell Line	Cell type
1	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
2	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
3	chr1:193058724..193061368-chr1:193089881..193091482,2	MCF-7	breast:
4	chr1:193082948..193084568-chr1:193088755..193090637,2	MCF-7	breast:
5	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
6	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
7	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
8	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
9	chr1:192778197..192780684-chr1:193088490..193091041,2	K562	blood:
10	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:

Variant related genes	Relation type
CDC73	TF binding region
ENSG00000023572	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000221680	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10399607	0.85[ASN][1000 genomes]
rs10399929	0.85[ASN][1000 genomes]
rs10494674	0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10732293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10733078	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10737620	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10737621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10737622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10754046	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10754047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10754048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10754049	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10754052	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10754053	0.86[ASN][1000 genomes]
rs10801167	0.81[ASN][1000 genomes]
rs10801173	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs10801174	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801175	0.88[ASN][1000 genomes]
rs10801177	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10801178	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10801179	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10801180	0.94[ASN][1000 genomes]
rs10801182	0.94[ASN][1000 genomes]
rs10801183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10801184	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10801187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801188	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10801189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10921305	0.81[ASN][1000 genomes]
rs10921308	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[ASN][1000 genomes]
rs10921310	0.90[ASN][1000 genomes]
rs10921312	1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10921313	0.90[ASN][1000 genomes]
rs10921317	0.98[ASN][1000 genomes]
rs10921318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10921319	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10921325	0.85[GIH][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10921326	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10921330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11577299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11583763	0.82[ASN][1000 genomes]
rs12086884	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs12090626	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12126529	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[ASN][1000 genomes]
rs12137318	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12141392	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12145057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12735445	0.83[ASN][1000 genomes]
rs1325197	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1408830	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1536097	0.85[ASN][1000 genomes]
rs1536098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1536099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1539724	0.91[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1555555	0.84[ASN][1000 genomes]
rs1890660	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.85[ASN][1000 genomes]
rs2181408	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2182106	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2186016	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275444	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2370028	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370029	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2370079	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs2370081	0.81[ASN][1000 genomes]
rs3738244	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3753948	0.84[ASN][1000 genomes]
rs3818865	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3820417	0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3945872	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs4379660	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs4450000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4466634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4657744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657745	0.94[ASN][1000 genomes]
rs4657840	0.82[ASN][1000 genomes]
rs4657842	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4657843	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs4657845	0.90[ASN][1000 genomes]
rs4657846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657847	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657848	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4658079	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs569656	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs6428151	0.98[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs6428153	0.86[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6428155	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6428156	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6428157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs6428159	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6661522	0.81[CHB][hapmap]
rs6663162	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6663431	0.87[ASN][1000 genomes]
rs6665069	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6665666	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6671237	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6672649	0.81[ASN][1000 genomes]
rs6673271	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs6675833	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6676322	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs6676416	0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6676878	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6680224	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs6692342	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6692805	0.82[ASN][1000 genomes]
rs6697079	0.88[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap]
rs6703727	0.91[ASN][1000 genomes]
rs693519	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7514072	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7515024	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap]
rs7518792	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs7519242	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs7542466	0.90[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.82[MKK][hapmap];0.87[ASN][1000 genomes]
rs7545223	0.85[ASN][1000 genomes]
rs7546869	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7547615	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7553247	0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs7554925	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs817140	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs843844	0.95[CHB][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap]
rs912070	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs912071	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9427838	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9783104	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3806351	GLRX2	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
2	chr1:193081200-193090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:193081600-193090600	Weak transcription	Lung	lung
4	chr1:193083200-193090200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:193083400-193090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:193085200-193090200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:193085400-193090200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:193085400-193090200	Weak transcription	Small Intestine	intestine
9	chr1:193085400-193090200	Weak transcription	NHLF	lung
10	chr1:193085600-193090200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:193085600-193090200	Weak transcription	HMEC	breast
12	chr1:193085600-193090400	Weak transcription	Hela-S3	cervix
13	chr1:193085600-193090600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:193085800-193090200	Weak transcription	Liver	Liver
15	chr1:193085800-193090400	Weak transcription	HSMMtube	muscle
16	chr1:193086200-193090200	Weak transcription	HepG2	liver
17	chr1:193087600-193092800	Active TSS	K562	blood
18	chr1:193088200-193090200	Enhancers	A549	lung
19	chr1:193088600-193090200	Weak transcription	GM12878-XiMat	blood
20	chr1:193089000-193090200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:193090000-193090200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:193090000-193090200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:193090000-193090200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:193090000-193090200	Enhancers	Brain Anterior Caudate	brain
25	chr1:193090000-193090200	Enhancers	Brain Hippocampus Middle	brain
26	chr1:193090000-193090200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:193090000-193090200	Enhancers	Fetal Lung	lung
28	chr1:193090000-193090200	Enhancers	NH-A	brain
29	chr1:193090000-193090200	Enhancers	NHEK	skin
30	chr1:193090000-193090600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:193090000-193090600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr1:193090000-193090600	Enhancers	Fetal Heart	heart
33	chr1:193090000-193090800	Flanking Active TSS	Dnd41	blood
34	chr1:193090000-193092000	Active TSS	Fetal Brain Female	brain
35	chr1:193090000-193092200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:193090000-193092400	Active TSS	Brain Inferior Temporal Lobe	brain

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