Variant report

Variant	rs4489713
Chromosome Location	chr11:101327802-101327803
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	SMC3	chr11:101327582-101327979	Hela-S3	cervix:	n/a	chr11:101327721-101327735
2	CTCF	chr11:101327438-101328137	A549	lung:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
3	CTCF	chr11:101327660-101327810	HEEpiC	esophagus:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
4	CTCF	chr11:101327660-101327810	HRE	kidney:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
5	CTCF	chr11:101327655-101327821	Pancreas_OC	pancreas:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
6	CTCF	chr11:101327680-101327830	HA-sp	spinal cord:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
7	RAD21	chr11:101327551-101327990	Hela-S3	cervix:	n/a	chr11:101327720-101327739
8	RAD21	chr11:101327551-101327853	GM12878	blood:	n/a	chr11:101327720-101327739
9	CTCF	chr11:101327598-101327847	HCT-116	colon:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
10	RAD21	chr11:101327644-101327887	GM12878	blood:	n/a	chr11:101327720-101327739
11	CTCF	chr11:101327680-101327830	Hela-S3	cervix:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
12	CTCF	chr11:101327660-101327810	HCPEpiC	choroid plexus:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
13	RAD21	chr11:101327608-101327942	MCF-7	breast:	n/a	chr11:101327720-101327739
14	RAD21	chr11:101327504-101327939	HepG2	liver:	n/a	chr11:101327720-101327739
15	SMC3	chr11:101327641-101327881	HepG2	liver:	n/a	chr11:101327721-101327735
16	RAD21	chr11:101327618-101327877	A549	lung:	n/a	chr11:101327720-101327739
17	CTCF	chr11:101327621-101327833	Lung_OC	lung:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
18	RAD21	chr11:101327431-101328122	SK-N-SH	brain:	n/a	chr11:101327720-101327739
19	CTCF	chr11:101327740-101327890	AG04450	lung:	n/a	n/a
20	CTCF	chr11:101327604-101327823	Spleen_OC	spleen:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
21	CTCF	chr11:101327760-101327910	HAc	cerebellar:	n/a	n/a
22	CTCF	chr11:101327720-101327870	HVMF	connective:	n/a	chr11:101327721-101327742
23	RAD21	chr11:101327619-101327943	HepG2	liver:	n/a	chr11:101327720-101327739
24	RAD21	chr11:101327534-101328026	A549	lung:	n/a	chr11:101327720-101327739
25	CTCF	chr11:101327552-101327865	H1-hESC	embryonic stem cell:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
26	SMC3	chr11:101327586-101327955	GM12878	blood:	n/a	chr11:101327721-101327735
27	CTCF	chr11:101327660-101327810	AG04450	lung:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
28	CTCF	chr11:101327556-101327910	MCF-7	breast:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
29	CTCF	chr11:101327660-101327810	AoAF	blood vessel:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
30	RAD21	chr11:101327562-101328029	H1-hESC	embryonic stem cell:	n/a	chr11:101327720-101327739
31	RAD21	chr11:101327527-101328064	ECC-1	luminal epithelium:	n/a	chr11:101327720-101327739
32	RAD21	chr11:101327522-101327980	H1-hESC	embryonic stem cell:	n/a	chr11:101327720-101327739
33	CTCF	chr11:101327548-101327907	GM12878	blood:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
34	ZNF143	chr11:101327683-101327827	GM12878	blood:	n/a	n/a
35	RAD21	chr11:101327430-101328007	HCT-116	colon:	n/a	chr11:101327720-101327739
36	CTCF	chr11:101327660-101327810	GM12873	blood:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
37	RAD21	chr11:101327449-101328085	HCT-116	colon:	n/a	chr11:101327720-101327739
38	CTCF	chr11:101327680-101327830	Caco-2	colon:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
39	CTCF	chr11:101327641-101327811	GM12878	blood:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
40	CTCF	chr11:101327660-101327810	GM12865	blood:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
41	CTCF	chr11:101327660-101327810	HCM	heart:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
42	CTCF	chr11:101327640-101327818	HUVEC	blood vessel:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
43	CTCF	chr11:101327597-101327888	A549	lung:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
44	CTCF	chr11:101327660-101327810	HPF	lung:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
45	CTCF	chr11:101327514-101328030	IMR90	lung:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
46	CTCF	chr11:101327680-101327830	HEEpiC	esophagus:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
47	CTCF	chr11:101327740-101327890	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr11:101327462-101328054	HCT-116	colon:	n/a	chr11:101327721-101327742 chr11:101327719-101327737
49	CTCF	chr11:101327740-101327890	BE2_C	brain:	n/a	n/a
50	RAD21	chr11:101327452-101328086	A549	lung:	n/a	chr11:101327720-101327739

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101327259..101328354-chr11:101718588..101719686,4	MCF-7	breast:

Variant related genes	Relation type
TRPC6	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10082588	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10444351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791472	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791473	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895109	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10895110	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895112	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10895113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224766	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11224768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11224769	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224771	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224772	0.95[ASN][1000 genomes]
rs11224773	0.93[ASN][1000 genomes]
rs11224779	0.85[AMR][1000 genomes]
rs11224780	0.85[AMR][1000 genomes]
rs11819801	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11822192	0.83[AMR][1000 genomes]
rs12276736	0.80[EUR][1000 genomes]
rs12362848	0.82[AMR][1000 genomes]
rs12366144	0.80[AMR][1000 genomes]
rs12788461	0.89[ASN][1000 genomes]
rs12795728	0.98[ASN][1000 genomes]
rs12797690	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804391	0.98[ASN][1000 genomes]
rs12804595	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12805398	0.98[ASN][1000 genomes]
rs3824933	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4255512	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4271356	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4396256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405276	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6590859	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6590860	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105083	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109734	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7110162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7113655	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7120857	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928922	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930422	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931399	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7935581	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7936768	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942665	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947695	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948300	0.83[AMR][1000 genomes]
rs7948687	0.83[AMR][1000 genomes]
rs7948940	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7950048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv468851	chr11:101268447-101330807	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556132	chr11:101268447-101330807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2830219	chr11:101319531-101382967	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101314400-101352800	Weak transcription	Aorta	Aorta
2	chr11:101316400-101330000	Weak transcription	Fetal Lung	lung
3	chr11:101320000-101336600	Weak transcription	Ovary	ovary
4	chr11:101321200-101328600	Weak transcription	NHDF-Ad	bronchial
5	chr11:101324800-101328600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:101325000-101328000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:101325000-101329000	Weak transcription	NHLF	lung
8	chr11:101325000-101329000	Weak transcription	Osteobl	bone
9	chr11:101327800-101328400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:101327800-101328400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:101327800-101329600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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