Variant report

Variant	rs512194
Chromosome Location	chr11:59522387-59522388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr11:59521459-59524064	K562	blood:	n/a	n/a
2	USF1	chr11:59522193-59523804	HCT-116	colon:	n/a	chr11:59523279-59523290 chr11:59523566-59523577 chr11:59522833-59522849
3	CTCF	chr11:59522260-59522410	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr11:59522360-59522510	HPAF	blood vessel:	n/a	n/a
5	E2F6	chr11:59521513-59523560	K562	blood:	n/a	chr11:59522829-59522839 chr11:59523236-59523248 chr11:59522826-59522835 chr11:59521608-59521617 chr11:59522828-59522838 chr11:59521715-59521725 chr11:59523060-59523070
6	SP1	chr11:59522209-59523000	H1-hESC	embryonic stem cell:	n/a	chr11:59522799-59522808 chr11:59522872-59522884 chr11:59522869-59522883 chr11:59522873-59522882 chr11:59522797-59522809
7	MAX	chr11:59521399-59523549	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr11:59521372-59523745	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:59522350-59523653	K562	blood:	n/a	n/a
10	UBTF	chr11:59522277-59522722	K562	blood:	n/a	n/a
11	RAD21	chr11:59521247-59523103	SK-N-SH	brain:	n/a	chr11:59521600-59521619 chr11:59521605-59521615 chr11:59521603-59521616
12	CHD2	chr11:59522290-59522894	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr11:59522324-59522787	K562	blood:	n/a	n/a
14	POLR2A	chr11:59522293-59523681	HUVEC	blood vessel:	n/a	n/a
15	BRCA1	chr11:59522313-59522619	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:59520889-59523923	SK-N-SH	brain:	n/a	chr11:59521599-59521617 chr11:59521601-59521622 chr11:59521604-59521614 chr11:59521602-59521615 chr11:59521602-59521611 chr11:59521600-59521616 chr11:59521602-59521615
17	POLR2A	chr11:59522153-59523741	K562	blood:	n/a	n/a
18	ZBTB7A	chr11:59522357-59523695	ECC-1	luminal epithelium:	n/a	chr11:59523195-59523203
19	ZEB1	chr11:59521394-59523791	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:59521521-59524625	HUVEC	blood vessel:	n/a	n/a
21	E2F4	chr11:59522250-59522866	MCF10A-Er-Src	breast:	n/a	chr11:59522829-59522839 chr11:59522826-59522835 chr11:59522828-59522838
22	KAP1	chr11:59521408-59522767	HEK293	kidney:	n/a	n/a
23	MYC	chr11:59522227-59522479	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr11:59522299-59522852	K562	blood:	n/a	chr11:59522829-59522839 chr11:59522828-59522838 chr11:59522823-59522833
25	CBX3	chr11:59521296-59522730	K562	blood:	n/a	n/a
26	MAZ	chr11:59522282-59523873	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:59521622-59524571	Hela-S3	cervix:	n/a	n/a
28	SIN3AK20	chr11:59521352-59523760	MCF-7	breast:	n/a	n/a
29	MYC	chr11:59522197-59523870	K562	blood:	n/a	n/a
30	CTCF	chr11:59522280-59522430	NHLF	lung:	n/a	n/a
31	STAT3	chr11:59522292-59522574	MCF10A-Er-Src	breast:	n/a	n/a
32	ZNF143	chr11:59522348-59522722	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr11:59522227-59523680	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr11:59522254-59523294	PANC-1	pancreas:	n/a	n/a
35	TBL1XR1	chr11:59522381-59523565	K562	blood:	n/a	n/a
36	POLR2A	chr11:59522134-59523988	HUVEC	blood vessel:	n/a	n/a
37	ELK1	chr11:59522022-59522462	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:59522365-59523074	U87	brain:	n/a	n/a
39	CEBPB	chr11:59522250-59522570	Hela-S3	cervix:	n/a	n/a
40	E2F6	chr11:59522338-59522501	K562	blood:	n/a	n/a
41	CTCF	chr11:59522380-59522530	HMEC	breast:	n/a	n/a
42	RFX5	chr11:59521468-59522637	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:59522219-59522902	U87	brain:	n/a	n/a
44	POLR2A	chr11:59522365-59523085	U87	brain:	n/a	n/a
45	CTCF	chr11:59520913-59524235	A549	lung:	n/a	chr11:59521599-59521617 chr11:59521601-59521622 chr11:59521604-59521614 chr11:59521602-59521615 chr11:59521602-59521611 chr11:59521600-59521616 chr11:59521602-59521615
46	CTCF	chr11:59522340-59522490	AG10803	skin:	n/a	n/a
47	CTCF	chr11:59522340-59522490	SK-N-SH_RA	brain:	n/a	n/a
48	TFAP2C	chr11:59522069-59523698	Hela-S3	cervix:	n/a	chr11:59522412-59522427
49	MXI1	chr11:59522053-59522682	Hela-S3	cervix:	n/a	n/a
50	MYC	chr11:59521514-59523716	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59514703..59516740-chr11:59522091..59524203,2	MCF-7	breast:
2	chr11:59520214..59524923-chr11:59576549..59579669,4	MCF-7	breast:
3	chr11:59521605..59525070-chr11:59543036..59549785,6	MCF-7	breast:
4	chr11:59480505..59482058-chr11:59521372..59523220,2	MCF-7	breast:
5	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
6	chr1:114300956..114303148-chr11:59521456..59522999,2	MCF-7	breast:
7	chr11:59436132..59436823-chr11:59522370..59523215,2	Hela-S3	cervix:
8	chr11:59520935..59525781-chr11:59552803..59557885,8	MCF-7	breast:
9	chr1:114301552..114304210-chr11:59521950..59524919,2	MCF-7	breast:
10	chr11:59479954..59482315-chr11:59521677..59523287,2	K562	blood:
11	chr11:59519722..59526041-chr11:59575307..59578961,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10V1-1	chr11:59521753-59522448	ENSG00000254477.1

Variant related genes	Relation type
STX3	TF binding region
ENSG00000166889	Chromatin interaction
ENSG00000166902	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000255538	Chromatin interaction
ENSG00000172289	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000234964	Chromatin interaction

Extended variants
information (count: 203 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:200)

rs_ID	r²[population]
rs10501380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1121991	0.84[EUR][1000 genomes]
rs11230020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs11230037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs1151063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1151064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11821333	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11821465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs12272588	0.84[EUR][1000 genomes]
rs12276505	0.86[JPT][hapmap]
rs12278859	0.80[EUR][1000 genomes]
rs12278910	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs12280606	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs12285828	0.82[EUR][1000 genomes]
rs12287696	1.00[TSI][hapmap]
rs12289162	0.80[EUR][1000 genomes]
rs12289921	1.00[CEU][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs12290453	1.00[TSI][hapmap]
rs12292682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12797334	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1287111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1290457	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1290459	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1299800	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17046	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17153910	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs17153962	1.00[MEX][hapmap]
rs17154025	1.00[CHB][hapmap]
rs17154029	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17154134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17154138	0.92[EUR][1000 genomes]
rs17154142	1.00[CHB][hapmap]
rs17154146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17154149	0.92[EUR][1000 genomes]
rs17154157	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17154165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17154169	0.92[EUR][1000 genomes]
rs17154175	0.92[EUR][1000 genomes]
rs17154180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17154195	0.92[EUR][1000 genomes]
rs17154200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17154203	1.00[CHB][hapmap]
rs17154205	1.00[CHB][hapmap]
rs17154216	1.00[CHB][hapmap]
rs17154222	0.92[EUR][1000 genomes]
rs17154227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17154234	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs17510841	1.00[TSI][hapmap]
rs17593682	1.00[TSI][hapmap]
rs17593836	1.00[TSI][hapmap]
rs17596359	1.00[TSI][hapmap]
rs17596862	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs17597065	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs17597092	1.00[TSI][hapmap]
rs1938690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2186597	0.84[EUR][1000 genomes]
rs2447310	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2508335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2509274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509276	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2509290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2509730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes]
rs2927183	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2927184	1.00[CHB][hapmap]
rs2957223	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3110321	0.81[AMR][1000 genomes]
rs3110322	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3132748	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34350918	0.80[EUR][1000 genomes]
rs35211634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs3781792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs3781793	0.92[EUR][1000 genomes]
rs3862660	0.92[EUR][1000 genomes]
rs41340150	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs41384548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs4301803	0.84[EUR][1000 genomes]
rs4356243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4393334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4515985	0.84[EUR][1000 genomes]
rs471369	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs472152	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs472177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs473087	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs473490	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs473979	1.00[CHB][hapmap]
rs474844	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs475145	1.00[CHB][hapmap]
rs475706	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs475800	0.83[AMR][1000 genomes]
rs477577	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs477729	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs478167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes]
rs479264	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs480944	0.84[AMR][1000 genomes]
rs481893	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs482355	1.00[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];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs482356	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs484814	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs484895	0.92[EUR][1000 genomes]
rs485008	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs485803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs486587	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs486952	1.00[MEX][hapmap]
rs488331	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs492652	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs494110	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs495564	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs496938	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs497596	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs498099	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs498299	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs498388	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs499037	1.00[CHB][hapmap]
rs499054	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs504016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs506384	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs507235	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs508411	1.00[CHB][hapmap]
rs510122	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs511785	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs511957	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs512695	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs513979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs516912	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs519605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520622	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs521330	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs523016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs524102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs526672	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs528525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes]
rs529270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs533166	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs536544	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs537595	1.00[CHB][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs537625	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs538169	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs540684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs540989	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs549086	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs550189	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550822	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs552601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs553700	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs554149	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs554848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs555175	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs555251	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs559150	1.00[MEX][hapmap]
rs561029	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs562657	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs563267	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs563800	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs565983	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs567485	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs567603	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs567994	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs569326	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs573592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57529518	0.92[EUR][1000 genomes]
rs577224	1.00[CHB][hapmap]
rs577644	0.81[AMR][1000 genomes]
rs57871852	0.92[EUR][1000 genomes]
rs579192	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs579362	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs579373	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs580242	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs581265	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58169611	0.92[EUR][1000 genomes]
rs58775794	0.92[EUR][1000 genomes]
rs60009036	0.92[EUR][1000 genomes]
rs60094706	0.92[EUR][1000 genomes]
rs61636608	0.92[EUR][1000 genomes]
rs6591541	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs693110	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7112355	1.00[TSI][hapmap]
rs7114773	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7116567	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7117509	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7119778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7123969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7124813	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7126593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7131059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs73486962	0.80[EUR][1000 genomes]
rs73486971	0.80[EUR][1000 genomes]
rs73486979	0.80[EUR][1000 genomes]
rs73486988	0.84[EUR][1000 genomes]
rs73486997	0.84[EUR][1000 genomes]
rs7933970	0.90[EUR][1000 genomes]
rs7937245	1.00[CHB][hapmap]
rs7937684	1.00[CHB][hapmap]
rs7941643	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7946152	0.92[EUR][1000 genomes]
rs7947036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7947514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7952024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs8280	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]

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	esv2752406	chr11:59490424-59529524	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	esv2755215	chr11:59515524-59529524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
3	nsv1046086	chr11:59520424-59561455	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59521200-59523600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:59521400-59522400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:59521400-59522400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:59521400-59523400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:59521400-59523400	Active TSS	Brain Angular Gyrus	brain
6	chr11:59521400-59523600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:59521400-59523800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:59521400-59524000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:59521400-59524000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:59521400-59524000	Active TSS	Fetal Intestine Large	intestine
11	chr11:59521400-59524200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:59521400-59524400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:59521400-59524400	Active TSS	HSMMtube	muscle
14	chr11:59521400-59524600	Active TSS	Fetal Intestine Small	intestine
15	chr11:59521600-59522400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:59521600-59522400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr11:59521600-59522400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr11:59521600-59522400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr11:59521600-59522400	Flanking Active TSS	Colonic Mucosa	Colon
20	chr11:59521600-59522400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:59521600-59522400	Flanking Active TSS	Thymus	Thymus
22	chr11:59521600-59522400	Flanking Active TSS	GM12878-XiMat	blood
23	chr11:59521600-59522400	Flanking Active TSS	HSMM	muscle
24	chr11:59521600-59522400	Flanking Active TSS	HUVEC	blood vessel
25	chr11:59521600-59522600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:59521600-59522600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:59521600-59522600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr11:59521600-59522600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr11:59521600-59522600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:59521600-59522600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:59521600-59522600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr11:59521600-59522600	Bivalent/Poised TSS	Fetal Brain Male	brain
33	chr11:59521600-59522600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:59521600-59522600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:59521600-59522800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr11:59521600-59522800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr11:59521600-59523200	Active TSS	Brain Anterior Caudate	brain
38	chr11:59521600-59523400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:59521600-59523400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:59521600-59523400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:59521600-59523400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:59521600-59523400	Active TSS	Aorta	Aorta
43	chr11:59521600-59523400	Active TSS	Brain Hippocampus Middle	brain
44	chr11:59521600-59523400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:59521600-59523400	Active TSS	Brain Substantia Nigra	brain
46	chr11:59521600-59523400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr11:59521600-59523400	Active TSS	Psoas Muscle	Psoas
48	chr11:59521600-59523400	Active TSS	Spleen	Spleen
49	chr11:59521600-59523400	Active TSS	A549	lung
50	chr11:59521600-59523400	Active TSS	NHDF-Ad	bronchial

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Variant report

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