Variant report

Variant	rs12342508
Chromosome Location	chr9:116274580-116274581
allele	A/G
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	BCLAF1	chr9:116274261-116275080	GM12878	blood:	n/a	chr9:116274694-116274703
2	POU2F2	chr9:116274518-116274949	GM12878	blood:	n/a	n/a
3	BCL11A	chr9:116274562-116275023	GM12878	blood:	n/a	chr9:116274694-116274703
4	EBF1	chr9:116274449-116275274	GM12878	blood:	n/a	n/a
5	RELA	chr9:116274255-116275144	GM18951	blood:	n/a	n/a
6	PAX5	chr9:116274539-116275056	GM12878	blood:	n/a	chr9:116274694-116274703
7	SP1	chr9:116274486-116275101	GM12878	blood:	n/a	chr9:116274817-116274831
8	CHD1	chr9:116274265-116275051	GM12878	blood:	n/a	n/a
9	RELA	chr9:116274213-116275106	GM15510	blood:	n/a	n/a
10	RCOR1	chr9:116274417-116274846	K562	blood:	n/a	n/a
11	MTA3	chr9:116274236-116275229	GM12878	blood:	n/a	n/a
12	POU2F2	chr9:116274470-116275111	GM12891	blood:	n/a	chr9:116275097-116275109
13	RUNX3	chr9:116274294-116275257	GM12878	blood:	n/a	n/a
14	MTA3	chr9:116273986-116275187	GM12878	blood:	n/a	n/a
15	CHD2	chr9:116274502-116275159	GM12878	blood:	n/a	n/a
16	FOXM1	chr9:116274485-116275093	GM12878	blood:	n/a	n/a
17	ATF1	chr9:116274486-116274821	K562	blood:	n/a	n/a
18	POLR2A	chr9:116274471-116274856	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr9:116274494-116274871	GM12891	blood:	n/a	n/a
20	RELA	chr9:116274280-116275118	GM18505	blood:	n/a	n/a
21	EP300	chr9:116274547-116275048	GM12878	blood:	n/a	n/a
22	GATA2	chr9:116274285-116274892	HUVEC	blood vessel:	n/a	chr9:116274694-116274704 chr9:116274679-116274688
23	BATF	chr9:116274449-116275045	GM12878	blood:	n/a	n/a
24	MAZ	chr9:116274507-116275079	GM12878	blood:	n/a	n/a
25	YY1	chr9:116274535-116274969	GM12878	blood:	n/a	n/a
26	ELK1	chr9:116274517-116275044	GM12878	blood:	n/a	n/a
27	MYC	chr9:116274508-116275024	NB4	blood:	n/a	n/a
28	TBL1XR1	chr9:116274439-116275120	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:116274471-116275111	GM12878	blood:	n/a	chr9:116274694-116274703 chr9:116275090-116275099
30	NRF1	chr9:116274539-116275019	GM12878	blood:	n/a	n/a
31	NFIC	chr9:116274417-116275108	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:116274383-116275135	GM12892	blood:	n/a	n/a
33	BHLHE40	chr9:116274336-116275115	GM12878	blood:	n/a	n/a
34	BCLAF1	chr9:116274254-116275091	GM12878	blood:	n/a	chr9:116274694-116274703
35	STAT5A	chr9:116274507-116275183	GM12878	blood:	n/a	chr9:116274692-116274700
36	RELA	chr9:116274243-116275201	GM19193	blood:	n/a	n/a
37	RCOR1	chr9:116274294-116275077	GM12878	blood:	n/a	n/a
38	POU2F2	chr9:116274408-116275062	GM12891	blood:	n/a	n/a
39	ATF2	chr9:116274404-116275122	GM12878	blood:	n/a	n/a
40	TBP	chr9:116274283-116274855	GM12878	blood:	n/a	n/a
41	SPI1	chr9:116274570-116274733	GM12878	blood:	n/a	chr9:116274690-116274703
42	EP300	chr9:116274435-116275112	GM12878	blood:	n/a	n/a
43	NFATC1	chr9:116274432-116275067	GM12878	blood:	n/a	n/a
44	POLR2A	chr9:116274467-116274785	GM12878	blood:	n/a	n/a
45	RELA	chr9:116274403-116275125	GM10847	blood:	n/a	n/a
46	FOXM1	chr9:116274368-116275145	GM12878	blood:	n/a	n/a
47	RELA	chr9:116274247-116275121	GM19099	blood:	n/a	n/a
48	POLR2A	chr9:116274295-116274944	GM12892	blood:	n/a	n/a
49	STAT5A	chr9:116274380-116275174	GM12878	blood:	n/a	chr9:116274692-116274700
50	ATF2	chr9:116274362-116274991	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116268020..116270746-chr9:116274035..116276805,2	MCF-7	breast:

Variant related genes	Relation type
RGS3	TF binding region

Extended variants
information (count: 223 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:218)

rs_ID	r²[population]
rs10116799	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10125960	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10217237	1.00[AFR][1000 genomes]
rs10217341	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10217750	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10217756	1.00[AFR][1000 genomes]
rs10481640	1.00[AFR][1000 genomes]
rs10481676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481677	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981789	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981793	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981794	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981803	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981808	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981814	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981815	0.86[ASW][hapmap];0.90[LWK][hapmap];0.81[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs10981816	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981817	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981819	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981820	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981821	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981825	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981826	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981828	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981829	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981830	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs10981831	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981832	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12335716	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12335991	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12336719	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12337340	0.86[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12338221	0.99[AFR][1000 genomes]
rs12338588	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12338697	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12338701	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12338788	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12339493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12339501	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12339617	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12339851	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12340996	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341332	1.00[CEU][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12341490	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12342699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12343129	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12343141	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12343940	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12344334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12344578	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12344964	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12345524	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12345968	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12346076	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12346087	0.93[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12346939	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12347382	0.93[AFR][1000 genomes]
rs12347895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12348214	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12348239	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12349661	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12351728	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12353541	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1890992	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2050865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2050866	0.92[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28594159	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28694002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28709996	1.00[AFR][1000 genomes]
rs28714985	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35270441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3983381	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41301525	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41305473	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41313331	0.86[EUR][1000 genomes]
rs4596719	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4979257	0.83[GIH][hapmap];0.93[LWK][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs55676913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55696921	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55714377	0.91[AFR][1000 genomes]
rs55777057	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55805468	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55931715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55977108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56155263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56276438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56390346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61749208	0.91[EUR][1000 genomes]
rs6478011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6478012	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs6478016	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6478017	1.00[ASW][hapmap];0.81[CEU][hapmap];0.83[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6478022	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6478023	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7018783	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7020623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7021491	1.00[ASW][hapmap];0.81[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7021688	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7023661	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7024445	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7024612	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7024996	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7025170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7025745	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7026568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7026656	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027024	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027340	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7028327	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7029685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7032311	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7033679	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7037441	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7037761	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7040031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7040635	0.89[AFR][1000 genomes]
rs7041833	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042695	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042968	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7043140	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043571	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7045347	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7046202	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7046427	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7047062	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7048208	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7048305	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs7049221	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs72760092	0.89[EUR][1000 genomes]
rs72760093	0.87[EUR][1000 genomes]
rs72760096	0.96[AFR][1000 genomes]
rs72760097	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72761903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761904	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72761905	1.00[AFR][1000 genomes]
rs72761906	0.93[AFR][1000 genomes]
rs72761963	0.93[AFR][1000 genomes]
rs72761964	1.00[AFR][1000 genomes]
rs72761965	0.94[AFR][1000 genomes]
rs72761966	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761968	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761969	1.00[AFR][1000 genomes]
rs72761971	1.00[AFR][1000 genomes]
rs72761972	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761973	1.00[AFR][1000 genomes]
rs72761978	1.00[AFR][1000 genomes]
rs72761982	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761985	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761988	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761992	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761994	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761997	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761999	0.87[AFR][1000 genomes]
rs72762002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763804	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763806	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763816	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763826	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763827	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763828	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763831	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763832	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763841	0.87[AFR][1000 genomes]
rs72763842	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763843	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763848	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763849	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7848203	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7849841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7851718	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7851937	0.86[ASW][hapmap];0.87[LWK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs7852118	0.86[ASW][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7853373	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853792	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7854197	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7854524	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs7855325	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7855434	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7856515	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7856689	1.00[ASW][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7857217	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7857943	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7859047	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7860673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7861248	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7863159	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7864467	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7864645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7864816	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7865364	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7867203	0.89[AFR][1000 genomes]
rs7867353	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7870142	0.91[AFR][1000 genomes]
rs7870227	0.86[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7870265	1.00[ASW][hapmap];0.81[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs7870451	0.92[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7870912	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7871186	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7872084	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7872192	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7872283	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs867375	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs883025	0.86[ASW][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs884898	0.86[ASW][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs884899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9299215	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs944345	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs944346	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9657641	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9657658	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9657659	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9785299	0.94[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12342508	C9orf43	cis	lymphoblastoid	seeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
2	chr9:116255600-116275800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116264800-116298400	Weak transcription	Brain Germinal Matrix	brain
5	chr9:116266800-116281600	Strong transcription	Fetal Stomach	stomach
6	chr9:116267400-116274800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:116268000-116275000	Genic enhancers	HUVEC	blood vessel
8	chr9:116268400-116277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:116268600-116278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:116269000-116288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:116269400-116288200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:116269600-116276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:116269600-116298400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:116269800-116276400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:116270000-116275000	Enhancers	Stomach Mucosa	stomach
17	chr9:116270400-116289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:116270400-116290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:116270600-116283800	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:116270600-116283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:116270800-116276000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:116270800-116276000	Weak transcription	Fetal Brain Female	brain
23	chr9:116270800-116285200	Weak transcription	Brain Substantia Nigra	brain
24	chr9:116270800-116285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:116271000-116285200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:116271000-116285600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:116271200-116275000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr9:116271200-116275000	Enhancers	Spleen	Spleen
29	chr9:116271200-116278200	Weak transcription	Adipose Nuclei	Adipose
30	chr9:116271400-116276000	Weak transcription	Gastric	stomach
31	chr9:116271400-116281200	Weak transcription	Fetal Kidney	kidney
32	chr9:116272000-116276400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr9:116272000-116278200	Weak transcription	Fetal Lung	lung
34	chr9:116272200-116274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:116272800-116274600	Enhancers	Liver	Liver
36	chr9:116273000-116275200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:116273200-116274600	Enhancers	Pancreas	Pancrea
38	chr9:116273200-116275000	Enhancers	Placenta	Placenta
39	chr9:116273200-116276600	Enhancers	Fetal Thymus	thymus
40	chr9:116273200-116279400	Genic enhancers	Fetal Intestine Small	intestine
41	chr9:116273200-116279600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:116273400-116274600	Enhancers	Dnd41	blood
43	chr9:116273400-116275200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:116273400-116275200	Enhancers	HSMM	muscle
45	chr9:116273400-116279400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr9:116273600-116274600	Weak transcription	Colonic Mucosa	Colon
47	chr9:116273600-116275000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:116273600-116275000	Enhancers	Duodenum Mucosa	Duodenum
49	chr9:116273600-116275600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr9:116273600-116276000	Weak transcription	Aorta	Aorta

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Variant report

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