Variant report

Variant	rs11971291
Chromosome Location	chr7:5651861-5651862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5650427..5652222-chr7:5660370..5662038,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6975280	0.86[AFR][1000 genomes]
rs6975456	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
22	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
2	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:5636800-5661200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:5638400-5659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:5638800-5661200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
7	chr7:5639000-5655200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:5639000-5661200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:5641600-5659000	Weak transcription	Thymus	Thymus
10	chr7:5642200-5653400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:5642800-5664800	Weak transcription	Hela-S3	cervix
12	chr7:5643600-5660000	Weak transcription	Colonic Mucosa	Colon
13	chr7:5643800-5653200	Weak transcription	HSMMtube	muscle
14	chr7:5643800-5660400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:5643800-5661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:5644000-5659200	Weak transcription	Pancreas	Pancrea
17	chr7:5645000-5655200	Weak transcription	Gastric	stomach
18	chr7:5645000-5661200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:5645000-5661400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:5645000-5662000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:5645000-5662200	Weak transcription	GM12878-XiMat	blood
22	chr7:5645200-5652400	Weak transcription	Brain Substantia Nigra	brain
23	chr7:5645200-5659000	Weak transcription	Aorta	Aorta
24	chr7:5645400-5658600	Weak transcription	Fetal Intestine Large	intestine
25	chr7:5645400-5661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:5645600-5658400	Weak transcription	Osteobl	bone
27	chr7:5645600-5662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:5645800-5661200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:5646800-5659400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:5647000-5661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:5647200-5654600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:5647200-5659000	Weak transcription	HSMM	muscle
33	chr7:5647200-5661600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:5647200-5663000	Weak transcription	NH-A	brain
35	chr7:5647400-5653800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:5647400-5659000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:5647400-5659200	Weak transcription	Brain Angular Gyrus	brain
38	chr7:5647400-5660000	Weak transcription	Ovary	ovary
39	chr7:5647400-5662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
41	chr7:5647800-5655200	Weak transcription	Brain Anterior Caudate	brain
42	chr7:5647800-5659000	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:5647800-5661200	Weak transcription	NHDF-Ad	bronchial
44	chr7:5648000-5659000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:5648200-5655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:5648200-5659000	Weak transcription	Right Ventricle	heart
47	chr7:5648400-5653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:5648400-5654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:5648400-5655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:5648400-5655000	Weak transcription	Brain Germinal Matrix	brain

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