Variant report

Variant	nsv963909
Chromosome Location	chr2:36294616-36301346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 292 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:292 , 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	rs143625291	chr2:36294642-36294643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146871408	chr2:36294679-36294680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2634818	chr2:36294685-36294686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568502348	chr2:36294737-36294738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374358843	chr2:36294770-36294771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189632794	chr2:36294771-36294772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574778665	chr2:36294776-36294777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193078173	chr2:36294799-36294800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572574579	chr2:36294824-36294825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375174338	chr2:36294856-36294857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375710158	chr2:36294877-36294878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140744139	chr2:36294932-36294933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185816124	chr2:36294939-36294940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544177751	chr2:36294996-36294997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188980180	chr2:36295008-36295009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375237612	chr2:36295010-36295011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115593115	chr2:36295021-36295022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202151917	chr2:36295022-36295023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181509384	chr2:36295056-36295057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560582110	chr2:36295067-36295068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527743201	chr2:36295089-36295090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552739020	chr2:36295144-36295145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369161291	chr2:36295145-36295146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564519519	chr2:36295175-36295176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532070720	chr2:36295205-36295206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79766406	chr2:36295211-36295212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143757526	chr2:36295223-36295224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568540995	chr2:36295225-36295226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535865889	chr2:36295232-36295233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557131950	chr2:36295238-36295239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547750381	chr2:36295253-36295254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566239088	chr2:36295270-36295271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533607031	chr2:36295278-36295279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151078112	chr2:36295412-36295413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576956344	chr2:36295511-36295512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372995368	chr2:36295521-36295522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186151559	chr2:36295540-36295541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10495860	chr2:36295547-36295548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574759773	chr2:36295552-36295553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111366507	chr2:36295557-36295558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188515186	chr2:36295574-36295575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150105852	chr2:36295592-36295593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181379294	chr2:36295593-36295594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564734732	chr2:36295594-36295595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138761123	chr2:36295599-36295600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543967554	chr2:36295646-36295647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1397447	chr2:36295648-36295649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185918939	chr2:36295661-36295662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547786289	chr2:36295827-36295828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191167726	chr2:36295846-36295847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36288400-36306400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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