Variant report

Variant	nsv967455
Chromosome Location	chr7:13689647-13695427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 273 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545105243	chr7:13689678-13689679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73260983	chr7:13689703-13689704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575292448	chr7:13689736-13689737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543909512	chr7:13689763-13689764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141434384	chr7:13689778-13689779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529938339	chr7:13689779-13689780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371023993	chr7:13689784-13689785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398003720	chr7:13689800-13689801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376068103	chr7:13689807-13689808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371312165	chr7:13689814-13689815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540107671	chr7:13689822-13689823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559931275	chr7:13689843-13689844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532240484	chr7:13689875-13689876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552326130	chr7:13689974-13689975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571697235	chr7:13690000-13690001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371138578	chr7:13690006-13690007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111919126	chr7:13690013-13690014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551004920	chr7:13690039-13690040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558846983	chr7:13690042-13690043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10232485	chr7:13690063-13690064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536699954	chr7:13690064-13690065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536970866	chr7:13690079-13690080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189112521	chr7:13690080-13690081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141847420	chr7:13690081-13690082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368783980	chr7:13690114-13690115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34833449	chr7:13690131-13690132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs72139059	chr7:13690163-13690164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71548041	chr7:13690191-13690192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71033938	chr7:13690194-13690195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55865405	chr7:13690196-13690197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58628671	chr7:13690198-13690199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28460637	chr7:13690200-13690201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3220999	chr7:13690202-13690203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113761670	chr7:13690218-13690219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372350122	chr7:13690224-13690225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542241685	chr7:13690301-13690302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376373421	chr7:13690330-13690331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554165434	chr7:13690360-13690361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192120851	chr7:13690376-13690377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369607924	chr7:13690377-13690378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539825434	chr7:13690467-13690468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560042305	chr7:13690471-13690472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532434056	chr7:13690481-13690482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545721044	chr7:13690514-13690515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544577111	chr7:13690516-13690517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184966506	chr7:13690524-13690525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57726468	chr7:13690531-13690532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150633178	chr7:13690573-13690574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200572488	chr7:13690580-13690581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567681779	chr7:13690612-13690613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13688600-13697600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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