Variant report

Variant	rs942643
Chromosome Location	chr6:33668370-33668371
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	RAD21	chr6:33667998-33668706	HCT-116	colon:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475
2	CTCF	chr6:33668320-33668470	HUVEC	blood vessel:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
3	MAX	chr6:33668198-33668612	K562	blood:	n/a	n/a
4	RAD21	chr6:33668143-33668685	MCF-7	breast:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475
5	CTCF	chr6:33668279-33668572	GM19239	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
6	CTCF	chr6:33668300-33668450	GM12868	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
7	CTCF	chr6:33668293-33668550	MCF-7	breast:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
8	CTCF	chr6:33668332-33668550	GM20000	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
9	CTCF	chr6:33668314-33668546	Hela-S3	cervix:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
10	POLR2A	chr6:33668204-33668665	HCT-116	colon:	n/a	n/a
11	CTCF	chr6:33668360-33668510	HPF	lung:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
12	CTCF	chr6:33668289-33668559	Gliobla	brain:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
13	CREB1	chr6:33668172-33668578	A549	lung:	n/a	n/a
14	RAD21	chr6:33668169-33668595	H1-hESC	embryonic stem cell:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475
15	CTCF	chr6:33668360-33668510	HPAF	blood vessel:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
16	SMC3	chr6:33668148-33668612	GM12878	blood:	n/a	chr6:33668465-33668475 chr6:33668417-33668431
17	FOXM1	chr6:33668068-33668657	GM12878	blood:	n/a	n/a
18	BHLHE40	chr6:33668267-33668551	GM12878	blood:	n/a	n/a
19	CTCF	chr6:33668340-33668490	GM12875	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
20	CTCF	chr6:33668320-33668470	GM12874	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
21	CTCF	chr6:33668340-33668490	HRPEpiC	eye:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
22	CTCF	chr6:33668264-33668577	GM12892	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
23	CTCF	chr6:33668224-33668619	K562	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
24	CTCF	chr6:33668280-33668584	K562	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
25	CTCF	chr6:33668320-33668470	GM12872	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
26	CTCF	chr6:33668254-33668579	GM12891	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
27	RAD21	chr6:33668232-33668645	ECC-1	luminal epithelium:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475
28	CTCF	chr6:33668320-33668470	GM12867	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
29	CTCF	chr6:33668309-33668519	SK-N-SH_RA	brain:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
30	CTCF	chr6:33668340-33668490	AG09319	gingival:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
31	CTCF	chr6:33668360-33668510	AG10803	skin:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
32	CTCF	chr6:33668340-33668490	HFF-Myc	foreskin:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
33	MAZ	chr6:33668230-33668568	GM12878	blood:	n/a	n/a
34	STAT5A	chr6:33668136-33668608	GM12878	blood:	n/a	n/a
35	RAD21	chr6:33668205-33668606	GM12878	blood:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475
36	CTCF	chr6:33667959-33668855	HCT-116	colon:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
37	SPI1	chr6:33668132-33668427	GM12891	blood:	n/a	n/a
38	CTCF	chr6:33668340-33668490	HVMF	connective:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
39	CTCF	chr6:33668340-33668490	HMEC	breast:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
40	CTCF	chr6:33668297-33668560	Pancreas_OC	pancreas:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
41	YY1	chr6:33668239-33668483	GM12878	blood:	n/a	n/a
42	CTCF	chr6:33668340-33668490	GM12874	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
43	CTCF	chr6:33668320-33668470	Caco-2	colon:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
44	FOS	chr6:33668353-33668488	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr6:33667793-33668807	SK-N-SH	brain:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475
46	GABPA	chr6:33668169-33668523	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr6:33668157-33668659	MCF-7	breast:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475
48	CTCF	chr6:33668360-33668510	GM12873	blood:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
49	CTCF	chr6:33668220-33668490	A549	lung:	n/a	chr6:33668415-33668433 chr6:33668416-33668432 chr6:33668410-33668431 chr6:33668417-33668430
50	RAD21	chr6:33668309-33668539	K562	blood:	n/a	chr6:33668463-33668476 chr6:33668413-33668432 chr6:33668465-33668475

No.	Distal block	Cell Line	Cell type
1	chr6:33590320..33593181-chr6:33667665..33670096,2	MCF-7	breast:
2	chr6:33243707..33246364-chr6:33666916..33668671,2	MCF-7	breast:
3	chr6:33606352..33608133-chr6:33668168..33670127,2	K562	blood:
4	chr6:33661102..33664232-chr6:33667999..33669816,4	MCF-7	breast:
5	chr6:33554288..33554846-chr6:33668249..33668840,2	MCF-7	breast:
6	chr6:33553322..33554036-chr6:33667998..33668833,3	MCF-7	breast:
7	chr6:33557862..33560664-chr6:33667390..33670226,3	MCF-7	breast:
8	chr6:33557322..33558111-chr6:33667371..33668903,6	MCF-7	breast:
9	chr6:33551341..33552006-chr6:33667938..33668473,2	K562	blood:
10	chr6:33553081..33555328-chr6:33667772..33669168,10	K562	blood:
11	chr6:33667241..33669923-chr6:33710850..33712681,2	K562	blood:
12	chr6:33557542..33558049-chr6:33667963..33668918,2	MCF-7	breast:
13	chr6:33556676..33558804-chr6:33667221..33669587,2	K562	blood:
14	chr6:33553773..33556336-chr6:33668184..33671160,4	MCF-7	breast:
15	chr6:33420892..33423040-chr6:33668080..33670301,2	MCF-7	breast:
16	chr6:33668029..33668860-chr6:34122128..34122772,2	K562	blood:
17	chr6:33553176..33554214-chr6:33667921..33668866,4	MCF-7	breast:
18	chr6:33667395..33669385-chr6:33670170..33673083,3	MCF-7	breast:
19	chr6:33557066..33558559-chr6:33667900..33669281,8	K562	blood:

Variant related genes	Relation type
UQCC2	TF binding region
ENSG00000269490	TF binding region
ENSG00000269490	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000213588	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1014933	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10947430	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10947434	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947435	0.90[ASW][hapmap];0.90[CHB][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes]
rs11759396	0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1555965	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2147656	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2147657	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2229642	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2274458	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281829	0.90[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2296736	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2296738	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2296739	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2296741	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2296742	0.87[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2966	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3227	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818521	0.92[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3818523	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3818524	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3818525	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3818527	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3818528	0.92[YRI][hapmap]
rs3818529	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3818530	0.90[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4711336	0.89[ASW][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4711337	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4711338	0.87[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4711339	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711340	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711343	0.81[ASW][hapmap];0.90[CHB][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4713655	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713658	0.82[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4713659	0.90[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713660	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713663	0.81[AFR][1000 genomes]
rs4713665	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4713666	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713669	0.87[EUR][1000 genomes]
rs4713670	0.90[ASW][hapmap];1.00[CEU][hapmap];0.86[CHD][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4713671	0.90[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4713672	0.80[CHB][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4713674	0.81[ASW][hapmap];0.80[CHB][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4713675	0.90[CHB][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs509539	0.82[EUR][1000 genomes]
rs542441	0.85[CHD][hapmap]
rs560111	0.90[CHB][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs60704560	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs622917	0.85[GIH][hapmap]
rs6457739	0.90[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6904816	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6916949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6917140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6928010	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6938056	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749338	0.84[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs749847	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753890	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs754404	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs764752	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs764754	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7739505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759668	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770465	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs791902	0.82[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs791903	0.92[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs9348924	0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9348925	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9366828	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9368773	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9368776	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9380375	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394162	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9394163	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs942640	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs942641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469566	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs942643	ITPR3	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33621400-33672600	Strong transcription	Dnd41	blood
2	chr6:33640000-33669200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:33650400-33669000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33653000-33668600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:33659400-33668400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:33660200-33669400	Strong transcription	HepG2	liver
7	chr6:33661400-33669200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:33661600-33668600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:33661600-33668800	Genic enhancers	NHEK	skin
10	chr6:33661800-33675800	Weak transcription	Ovary	ovary
11	chr6:33662800-33669600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:33663000-33669000	Strong transcription	K562	blood
13	chr6:33663000-33678200	Weak transcription	Fetal Kidney	kidney
14	chr6:33663600-33668400	Strong transcription	Liver	Liver
15	chr6:33663600-33669600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:33663800-33668600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:33663800-33678600	Weak transcription	Small Intestine	intestine
18	chr6:33664600-33678000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:33664800-33668400	Strong transcription	Fetal Intestine Large	intestine
20	chr6:33664800-33669400	Strong transcription	Placenta	Placenta
21	chr6:33664800-33676200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:33665000-33668400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:33665000-33668600	Enhancers	Primary B cells from cord blood	blood
24	chr6:33665000-33668800	Genic enhancers	GM12878-XiMat	blood
25	chr6:33665200-33668800	Genic enhancers	Primary T cells from cord blood	blood
26	chr6:33665200-33668800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:33665200-33669000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:33665200-33678000	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:33665200-33678200	Weak transcription	Brain Substantia Nigra	brain
30	chr6:33665200-33678600	Weak transcription	Aorta	Aorta
31	chr6:33665400-33668400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:33665400-33669400	Strong transcription	Osteobl	bone
33	chr6:33665400-33669600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:33665400-33669800	Strong transcription	NHLF	lung
35	chr6:33665400-33670200	Weak transcription	Fetal Brain Male	brain
36	chr6:33665400-33672200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:33665400-33677800	Weak transcription	Stomach Mucosa	stomach
38	chr6:33665600-33669600	Strong transcription	Hela-S3	cervix
39	chr6:33665600-33678200	Weak transcription	NH-A	brain
40	chr6:33665600-33678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:33665800-33669400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:33665800-33676600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:33666000-33669000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:33666000-33669600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr6:33666000-33676200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:33666000-33676600	Weak transcription	Brain Angular Gyrus	brain
47	chr6:33666000-33677800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:33666000-33678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:33666200-33668600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:33666200-33669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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