Variant report

Variant	nsv525858
Chromosome Location	chr7:11467422-11475819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11466869..11467685-chr7:12498254..12498786,2	MCF-7	breast:
2	chr7:11467068..11467774-chr7:11597036..11597764,2	MCF-7	breast:
3	chr7:11467968..11470082-chr7:11470357..11472664,2	K562	blood:
4	chr7:11467204..11469366-chr7:12166192..12168544,2	K562	blood:
5	chr7:11460090..11463607-chr7:11464944..11467497,3	K562	blood:
6	chr7:11467369..11467919-chr7:11871403..11872276,3	MCF-7	breast:
7	chr7:11467968..11470082-chr7:11470357..11472664,2	K562	blood:

Variant related genes	Relation type
ENSG00000005108	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4720986	chr7:11467422-11467423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563589453	chr7:11467471-11467472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574668944	chr7:11467542-11467543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544357606	chr7:11467561-11467562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531988176	chr7:11467569-11467570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533946990	chr7:11467573-11467574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554012077	chr7:11467578-11467579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577028160	chr7:11467595-11467596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545820861	chr7:11467607-11467608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146285616	chr7:11467608-11467609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575983675	chr7:11467672-11467673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541896511	chr7:11467780-11467781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192750459	chr7:11467792-11467793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139410494	chr7:11467818-11467819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527403721	chr7:11467825-11467826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541177615	chr7:11467859-11467860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564348205	chr7:11467863-11467864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73066785	chr7:11467902-11467903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112526064	chr7:11467973-11467974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141735665	chr7:11467974-11467975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570011188	chr7:11467979-11467980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150551109	chr7:11468025-11468026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183667330	chr7:11468046-11468047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547152889	chr7:11468053-11468054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375574927	chr7:11468054-11468055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139522320	chr7:11468069-11468070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535133511	chr7:11468109-11468110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186825069	chr7:11468135-11468136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570604426	chr7:11468141-11468142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77676818	chr7:11468162-11468163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149684612	chr7:11468176-11468177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533028182	chr7:11468219-11468220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529161338	chr7:11468236-11468237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576304181	chr7:11468251-11468252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192507733	chr7:11468253-11468254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554942544	chr7:11468254-11468255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559724683	chr7:11468357-11468358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540764845	chr7:11468384-11468385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564698369	chr7:11468392-11468393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549112457	chr7:11468400-11468401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533388368	chr7:11468465-11468466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544078541	chr7:11468491-11468492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11464092	chr7:11468513-11468514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372613998	chr7:11468560-11468561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376913093	chr7:11468564-11468565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369942536	chr7:11468596-11468597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563794450	chr7:11468641-11468642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373848277	chr7:11468644-11468645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377684863	chr7:11468656-11468657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370952825	chr7:11468681-11468682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11456600-11477200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:11460400-11469200	Weak transcription	Left Ventricle	heart
3	chr7:11461000-11469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:11461000-11474800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:11464600-11473400	Weak transcription	Fetal Lung	lung
6	chr7:11464800-11468800	Weak transcription	Fetal Brain Male	brain
7	chr7:11464800-11485000	Weak transcription	Placenta	Placenta
8	chr7:11464800-11513400	Weak transcription	Fetal Kidney	kidney
9	chr7:11467000-11468000	Enhancers	A549	lung
10	chr7:11467600-11467800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:11467600-11468000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:11467600-11468400	Enhancers	HUVEC	blood vessel
13	chr7:11467600-11468800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:11467600-11469000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:11468000-11469000	Weak transcription	A549	lung
16	chr7:11468000-11476800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:11468400-11468600	Weak transcription	Pancreas	Pancrea
18	chr7:11468600-11468800	Enhancers	Pancreas	Pancrea
19	chr7:11468600-11469000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:11468600-11469000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:11468600-11469000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:11468600-11471200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:11468800-11469000	Enhancers	Fetal Brain Male	brain
24	chr7:11468800-11500200	Weak transcription	Pancreas	Pancrea
25	chr7:11469000-11469800	Enhancers	A549	lung
26	chr7:11469200-11471000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:11469400-11470200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:11469400-11470800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:11469400-11470800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:11469600-11470000	Enhancers	Fetal Heart	heart
31	chr7:11469600-11470600	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:11469600-11471200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:11470600-11479200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:11473400-11474400	Enhancers	Fetal Lung	lung
35	chr7:11473600-11474400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:11473600-11475600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:11474000-11474200	Enhancers	Hela-S3	cervix
38	chr7:11474000-11474800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:11474200-11475200	Weak transcription	Hela-S3	cervix
40	chr7:11474400-11474800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:11474400-11474800	Weak transcription	Fetal Lung	lung
42	chr7:11474800-11475400	Enhancers	Fetal Lung	lung
43	chr7:11474800-11475600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr7:11474800-11475600	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr7:11474800-11477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:11475200-11475400	Enhancers	Right Atrium	heart
47	chr7:11475200-11475600	Enhancers	Fetal Intestine Large	intestine
48	chr7:11475200-11475600	Enhancers	Hela-S3	cervix
49	chr7:11475400-11476600	Weak transcription	Fetal Lung	lung
50	chr7:11475400-11477200	Enhancers	Liver	Liver

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