Variant report

Variant	rs11972066
Chromosome Location	chr7:7472076-7472077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7470914..7472671-chr7:7492916..7494632,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1024714	1.00[JPT][hapmap]
rs10273515	1.00[GIH][hapmap]
rs10486183	0.86[EUR][1000 genomes]
rs10487593	1.00[GIH][hapmap]
rs11976726	1.00[AMR][1000 genomes]
rs11981351	1.00[GIH][hapmap]
rs11981695	1.00[AMR][1000 genomes]
rs11982694	1.00[AMR][1000 genomes]
rs11984435	1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12666084	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12666106	1.00[EUR][1000 genomes]
rs12666212	1.00[EUR][1000 genomes]
rs12669035	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12669055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12669210	1.00[CHB][hapmap]
rs12670328	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12671201	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671418	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12672583	1.00[EUR][1000 genomes]
rs17167726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167774	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167927	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17457863	1.00[EUR][1000 genomes]
rs17459718	1.00[EUR][1000 genomes]
rs17459836	1.00[EUR][1000 genomes]
rs17459995	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17460037	1.00[EUR][1000 genomes]
rs17461022	1.00[EUR][1000 genomes]
rs17461446	1.00[EUR][1000 genomes]
rs17461474	1.00[EUR][1000 genomes]
rs17461538	1.00[EUR][1000 genomes]
rs17462749	1.00[EUR][1000 genomes]
rs17462946	0.86[EUR][1000 genomes]
rs17464197	0.86[EUR][1000 genomes]
rs17516587	1.00[EUR][1000 genomes]
rs17516628	1.00[EUR][1000 genomes]
rs17516739	1.00[EUR][1000 genomes]
rs17517530	1.00[EUR][1000 genomes]
rs17518494	1.00[ASN][1000 genomes]
rs17518933	1.00[EUR][1000 genomes]
rs17519339	1.00[EUR][1000 genomes]
rs17519423	1.00[EUR][1000 genomes]
rs17519676	1.00[EUR][1000 genomes]
rs17520004	1.00[EUR][1000 genomes]
rs17520619	1.00[EUR][1000 genomes]
rs17520689	1.00[EUR][1000 genomes]
rs17521499	0.86[EUR][1000 genomes]
rs17521779	1.00[EUR][1000 genomes]
rs17521814	0.86[EUR][1000 genomes]
rs17521904	0.86[EUR][1000 genomes]
rs17522036	1.00[EUR][1000 genomes]
rs17522077	0.86[EUR][1000 genomes]
rs17522279	1.00[EUR][1000 genomes]
rs17522625	0.86[EUR][1000 genomes]
rs17522950	1.00[EUR][1000 genomes]
rs17523400	1.00[EUR][1000 genomes]
rs1860726	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922629	1.00[EUR][1000 genomes]
rs2191815	1.00[EUR][1000 genomes]
rs2270080	1.00[GIH][hapmap]
rs34330034	1.00[EUR][1000 genomes]
rs35473859	1.00[EUR][1000 genomes]
rs35772304	1.00[EUR][1000 genomes]
rs55829736	1.00[AMR][1000 genomes]
rs56154637	1.00[AMR][1000 genomes]
rs56885641	1.00[AMR][1000 genomes]
rs58629004	1.00[AMR][1000 genomes]
rs58942552	1.00[AMR][1000 genomes]
rs59036921	1.00[AMR][1000 genomes]
rs59408763	1.00[AMR][1000 genomes]
rs59868178	1.00[AMR][1000 genomes]
rs60654515	0.86[EUR][1000 genomes]
rs61567987	1.00[AMR][1000 genomes]
rs6947219	1.00[AMR][1000 genomes]
rs6962404	1.00[JPT][hapmap]
rs6969871	0.86[EUR][1000 genomes]
rs6971476	1.00[JPT][hapmap]
rs6973525	1.00[AMR][1000 genomes]
rs6979399	1.00[JPT][hapmap]
rs73334105	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347181	1.00[AMR][1000 genomes]
rs73674553	1.00[AMR][1000 genomes]
rs73674556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782178	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7455200-7478600	Weak transcription	Pancreas	Pancrea
2	chr7:7464600-7472600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:7464600-7480200	Weak transcription	Aorta	Aorta
4	chr7:7465000-7477800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:7465000-7478600	Weak transcription	Gastric	stomach
6	chr7:7467200-7478800	Weak transcription	Ovary	ovary
7	chr7:7468000-7473400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:7468000-7473800	Weak transcription	Fetal Kidney	kidney
9	chr7:7468400-7484400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:7469000-7473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:7469200-7473400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:7469400-7472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:7469400-7472800	Weak transcription	HSMM	muscle
14	chr7:7469400-7477600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:7469600-7472800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:7469600-7473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:7469600-7473400	Weak transcription	Osteobl	bone
18	chr7:7469600-7478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:7469800-7472600	Weak transcription	NHDF-Ad	bronchial
20	chr7:7469800-7478400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:7471200-7472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:7471800-7472400	Enhancers	Fetal Intestine Small	intestine
23	chr7:7472000-7472200	Genic enhancers	Muscle Satellite Cultured Cells	--

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