Variant report

Variant	rs12343940
Chromosome Location	chr9:116217832-116217833
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	JUND	chr9:116217398-116218087	SK-N-SH	brain:	n/a	chr9:116217722-116217734 chr9:116217723-116217733 chr9:116217724-116217732 chr9:116217722-116217733 chr9:116217725-116217732 chr9:116217724-116217732
2	NR2F2	chr9:116217100-116218047	K562	blood:	n/a	n/a
3	MAX	chr9:116217451-116217964	SK-N-SH	brain:	n/a	chr9:116217723-116217732
4	EP300	chr9:116217524-116218110	HepG2	liver:	n/a	chr9:116217723-116217732
5	ZNF143	chr9:116217600-116218007	K562	blood:	n/a	n/a
6	MAFK	chr9:116217555-116217908	HepG2	liver:	n/a	chr9:116217717-116217732 chr9:116217722-116217731 chr9:116217722-116217732
7	FOS	chr9:116217489-116217973	HUVEC	blood vessel:	n/a	chr9:116217722-116217734 chr9:116217723-116217733 chr9:116217724-116217732 chr9:116217722-116217733 chr9:116217725-116217732 chr9:116217724-116217732
8	ATF1	chr9:116217567-116217961	K562	blood:	n/a	n/a
9	JUND	chr9:116217549-116217917	HepG2	liver:	n/a	chr9:116217722-116217734 chr9:116217723-116217733 chr9:116217724-116217732 chr9:116217722-116217733 chr9:116217725-116217732 chr9:116217724-116217732
10	TEAD4	chr9:116217403-116218196	HepG2	liver:	n/a	chr9:116217812-116217821
11	PBX3	chr9:116217434-116217962	SK-N-SH	brain:	n/a	n/a
12	MAFK	chr9:116217539-116218217	H1-hESC	embryonic stem cell:	n/a	chr9:116217717-116217732 chr9:116217722-116217731 chr9:116217722-116217732
13	GATA3	chr9:116217250-116218307	SK-N-SH	brain:	n/a	chr9:116217725-116217734
14	CEBPD	chr9:116217578-116218053	K562	blood:	n/a	n/a
15	POLR2A	chr9:116217441-116218152	SK-N-SH	brain:	n/a	n/a
16	EP300	chr9:116217605-116217953	K562	blood:	n/a	chr9:116217723-116217732
17	POLR2A	chr9:116217231-116217921	HepG2	liver:	n/a	n/a
18	MYC	chr9:116217794-116217990	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr9:116217560-116217910	HepG2	liver:	n/a	chr9:116217717-116217732 chr9:116217722-116217731 chr9:116217722-116217732
20	BATF	chr9:116217570-116217913	GM12878	blood:	n/a	chr9:116217724-116217735 chr9:116217721-116217731
21	EP300	chr9:116217563-116217932	Hela-S3	cervix:	n/a	chr9:116217723-116217732
22	KAP1	chr9:116217327-116218031	U2OS	brain:	n/a	n/a
23	MAFK	chr9:116217539-116217888	IMR90	lung:	n/a	chr9:116217717-116217732 chr9:116217722-116217731 chr9:116217722-116217732
24	BACH1	chr9:116217561-116218104	H1-hESC	embryonic stem cell:	n/a	chr9:116217721-116217735
25	GABPA	chr9:116217583-116217880	K562	blood:	n/a	n/a
26	TCF12	chr9:116217281-116219116	SK-N-SH	brain:	n/a	chr9:116217639-116217647
27	CUX1	chr9:116217210-116217930	K562	blood:	n/a	n/a
28	EP300	chr9:116217406-116218270	SK-N-SH	brain:	n/a	chr9:116217723-116217732
29	UBTF	chr9:116217504-116217863	K562	blood:	n/a	n/a
30	EP300	chr9:116217554-116217871	SK-N-SH_RA	brain:	n/a	chr9:116217723-116217732
31	GATA1	chr9:116217024-116218297	PBDE	blood:	n/a	chr9:116217725-116217734
32	NFIC	chr9:116217388-116218013	SK-N-SH	brain:	n/a	n/a
33	MAFF	chr9:116217395-116218166	K562	blood:	n/a	chr9:116217715-116217733
34	TAF1	chr9:116217553-116217885	H1-hESC	embryonic stem cell:	n/a	n/a
35	FOS	chr9:116217558-116217896	MCF10A-Er-Src	breast:	n/a	chr9:116217722-116217734 chr9:116217723-116217733 chr9:116217724-116217732 chr9:116217722-116217733 chr9:116217725-116217732 chr9:116217724-116217732
36	IRF1	chr9:116217350-116218069	K562	blood:	n/a	n/a
37	GATA1	chr9:116216837-116218413	K562	blood:	n/a	chr9:116217725-116217734
38	TBP	chr9:116217579-116217892	K562	blood:	n/a	n/a
39	JUN	chr9:116217536-116217950	HUVEC	blood vessel:	n/a	chr9:116217722-116217734 chr9:116217723-116217733 chr9:116217724-116217732 chr9:116217725-116217732 chr9:116217724-116217732
40	FOSL2	chr9:116217457-116217963	A549	lung:	n/a	chr9:116217722-116217734 chr9:116217723-116217733 chr9:116217724-116217732 chr9:116217723-116217734 chr9:116217725-116217732 chr9:116217724-116217732
41	TAF1	chr9:116217579-116217852	H1-hESC	embryonic stem cell:	n/a	n/a
42	TRIM28	chr9:116217459-116218059	K562	blood:	n/a	n/a
43	BACH1	chr9:116217514-116218113	K562	blood:	n/a	chr9:116217721-116217735
44	NFIC	chr9:116217225-116218191	SK-N-SH	brain:	n/a	n/a
45	TBL1XR1	chr9:116217386-116218029	K562	blood:	n/a	n/a
46	GATA3	chr9:116217304-116218230	SK-N-SH	brain:	n/a	chr9:116217725-116217734
47	FOS	chr9:116217566-116217860	MCF10A-Er-Src	breast:	n/a	chr9:116217722-116217734 chr9:116217723-116217733 chr9:116217724-116217732 chr9:116217722-116217733 chr9:116217725-116217732 chr9:116217724-116217732
48	EP300	chr9:116217299-116218265	K562	blood:	n/a	chr9:116217723-116217732
49	RAD21	chr9:116217544-116217833	SK-N-SH_RA	brain:	n/a	n/a
50	GATA2	chr9:116217322-116217931	K562	blood:	n/a	chr9:116217725-116217734

No.	Distal block	Cell Line	Cell type
1	chr9:116214726..116216613-chr9:116217512..116220196,2	MCF-7	breast:
2	chr9:116216968..116219264-chr9:116331054..116332865,2	K562	blood:
3	chr9:116217243..116218856-chr9:116225816..116227383,2	MCF-7	breast:

Variant related genes	Relation type
RGS3	TF binding region
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 174 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs10116799	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10125960	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10217341	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10481676	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]
rs10481677	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981803	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981807	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981808	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981814	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981816	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981817	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981819	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]
rs10981820	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981821	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981825	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10981826	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10981827	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10981828	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10981829	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10981831	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10981832	0.87[EUR][1000 genomes]
rs12335716	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12336719	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12337340	0.92[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12338588	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12338697	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12338701	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12339493	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12339501	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12339617	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12340996	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12341332	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12341490	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12342508	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]
rs12342699	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]
rs12343129	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12343141	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12344334	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12344578	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12345524	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]
rs12345968	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12346076	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12346087	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12346939	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12347895	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12348214	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12348239	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12349661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12353541	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1890992	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2050865	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]
rs2050866	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28594159	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28694002	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28714985	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35270441	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35358414	0.84[EUR][1000 genomes]
rs35533905	0.84[EUR][1000 genomes]
rs3983381	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41301525	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41305473	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41313331	0.91[EUR][1000 genomes]
rs4596719	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4979257	0.83[GIH][hapmap]
rs55676913	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55696921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55777057	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55805468	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55931715	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55977108	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56155263	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56276438	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56390346	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61749208	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6478011	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6478012	0.83[GIH][hapmap]
rs6478016	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478017	0.83[GIH][hapmap]
rs6478022	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6478023	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7018783	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7020623	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]
rs7021491	0.83[GIH][hapmap]
rs7021688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7023661	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]
rs7024445	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7024612	0.92[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7024996	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7025170	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7025745	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7026568	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7026656	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7027024	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7027340	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7028327	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]
rs7029685	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7032311	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7037441	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7040031	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]
rs7041833	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7042290	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7042695	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7043140	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7043571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7045347	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7046202	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7046427	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]
rs7047062	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7048208	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7048305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72760092	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72760093	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72760097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761903	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761966	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72761968	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761972	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761982	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761985	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761987	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72761988	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761992	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72761994	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72761997	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72762002	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763803	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763804	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763806	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763816	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72763826	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72763828	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763831	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72763842	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763843	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763846	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763848	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763849	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7848203	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7849841	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7851718	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]
rs7853373	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7853792	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7854197	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7855325	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7856515	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7857943	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7859047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7860673	0.92[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7861248	0.92[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7863159	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7864645	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7865364	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7867353	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7870227	0.92[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7870265	0.83[GIH][hapmap]
rs7870451	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7871186	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7872084	0.85[EUR][1000 genomes]
rs7872192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7872283	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs867375	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs884899	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9299215	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs944345	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs944346	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9657641	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9657658	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9657659	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12343940	C9orf43	cis	lymphoblastoid	seeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116210000-116218400	Weak transcription	Aorta	Aorta
2	chr9:116211800-116219600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:116216000-116225400	Weak transcription	Gastric	stomach
4	chr9:116216200-116218000	Enhancers	Fetal Heart	heart
5	chr9:116216200-116218400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:116216200-116218800	Enhancers	Adipose Nuclei	Adipose
7	chr9:116216200-116218800	Enhancers	Fetal Intestine Small	intestine
8	chr9:116216200-116218800	Enhancers	Psoas Muscle	Psoas
9	chr9:116216200-116218800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr9:116216200-116219000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr9:116216200-116219000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:116216200-116219000	Enhancers	NHDF-Ad	bronchial
13	chr9:116216200-116219800	Enhancers	Placenta	Placenta
14	chr9:116216200-116220000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:116216400-116218600	Enhancers	Stomach Mucosa	stomach
16	chr9:116216400-116219000	Enhancers	Colon Smooth Muscle	Colon
17	chr9:116216400-116219000	Enhancers	Fetal Intestine Large	intestine
18	chr9:116216600-116218400	Enhancers	Stomach Smooth Muscle	stomach
19	chr9:116216600-116218800	Enhancers	Fetal Thymus	thymus
20	chr9:116216600-116218800	Enhancers	Right Atrium	heart
21	chr9:116216600-116219000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:116216600-116219000	Enhancers	HUVEC	blood vessel
23	chr9:116216600-116220000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:116217000-116218000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:116217000-116218000	Enhancers	GM12878-XiMat	blood
26	chr9:116217000-116218200	Enhancers	Duodenum Mucosa	Duodenum
27	chr9:116217000-116218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:116217000-116218800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:116217000-116218800	Enhancers	Fetal Stomach	stomach
30	chr9:116217000-116218800	Enhancers	Small Intestine	intestine
31	chr9:116217000-116218800	Enhancers	K562	blood
32	chr9:116217000-116219000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:116217000-116219000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:116217000-116219000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:116217000-116219000	Enhancers	Fetal Lung	lung
36	chr9:116217000-116219000	Enhancers	Fetal Muscle Leg	muscle
37	chr9:116217000-116219000	Enhancers	Rectal Smooth Muscle	rectum
38	chr9:116217000-116219000	Enhancers	HSMM	muscle
39	chr9:116217000-116219000	Enhancers	HSMMtube	muscle
40	chr9:116217000-116219000	Enhancers	NH-A	brain
41	chr9:116217000-116219000	Enhancers	NHLF	lung
42	chr9:116217000-116219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:116217000-116219600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:116217200-116218000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:116217200-116218000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:116217200-116218000	Flanking Active TSS	HepG2	liver
47	chr9:116217200-116218000	Enhancers	HMEC	breast
48	chr9:116217200-116218000	Enhancers	NHEK	skin
49	chr9:116217200-116218200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:116217200-116218200	Enhancers	Brain Cingulate Gyrus	brain

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