Variant report

Variant	nsv582240
Chromosome Location	chr2:76935514-76949315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 784 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10182160	chr2:76935514-76935515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs72813385	chr2:76935528-76935529	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75950278	chr2:76935533-76935534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370520157	chr2:76935535-76935536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184140344	chr2:76935536-76935537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140437686	chr2:76935556-76935557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569574602	chr2:76935609-76935610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533919885	chr2:76935616-76935617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs11126555	chr2:76935623-76935624	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138521750	chr2:76935631-76935632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376716416	chr2:76935651-76935652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190037269	chr2:76935663-76935664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181483126	chr2:76935664-76935665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187015409	chr2:76935680-76935681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs142538904	chr2:76935689-76935690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564744831	chr2:76935690-76935691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146675154	chr2:76935696-76935697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138885894	chr2:76935708-76935709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540357796	chr2:76935753-76935754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561732953	chr2:76935760-76935761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376865277	chr2:76935773-76935774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190256457	chr2:76935856-76935857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371296890	chr2:76935859-76935860	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550823882	chr2:76935867-76935868	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562648438	chr2:76935885-76935886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs533298228	chr2:76935890-76935891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs182485773	chr2:76935899-76935900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114431266	chr2:76935955-76935956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77974879	chr2:76935982-76935983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs527363436	chr2:76935989-76935990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549111612	chr2:76936014-76936015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116476678	chr2:76936025-76936026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114688019	chr2:76936029-76936030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186397430	chr2:76936031-76936032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189666739	chr2:76936035-76936036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561241389	chr2:76936041-76936042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528248279	chr2:76936053-76936054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149284483	chr2:76936055-76936056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540296009	chr2:76936067-76936068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182346962	chr2:76936076-76936077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573657338	chr2:76936102-76936103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185271842	chr2:76936114-76936115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562946635	chr2:76936127-76936128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533054304	chr2:76936138-76936139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545318336	chr2:76936160-76936161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144485484	chr2:76936169-76936170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147990912	chr2:76936172-76936173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377316340	chr2:76936184-76936185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549050033	chr2:76936192-76936193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142317861	chr2:76936206-76936207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76934800-76936000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:76937000-76937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet

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