Variant report

Variant	nsv1012147
Chromosome Location	chr2:76936019-76957491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 955 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:955 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116476678	chr2:76936025-76936026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114688019	chr2:76936029-76936030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186397430	chr2:76936031-76936032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189666739	chr2:76936035-76936036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561241389	chr2:76936041-76936042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528248279	chr2:76936053-76936054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149284483	chr2:76936055-76936056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540296009	chr2:76936067-76936068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182346962	chr2:76936076-76936077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573657338	chr2:76936102-76936103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185271842	chr2:76936114-76936115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562946635	chr2:76936127-76936128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533054304	chr2:76936138-76936139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545318336	chr2:76936160-76936161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144485484	chr2:76936169-76936170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147990912	chr2:76936172-76936173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377316340	chr2:76936184-76936185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549050033	chr2:76936192-76936193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142317861	chr2:76936206-76936207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146037636	chr2:76936220-76936221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374930083	chr2:76936223-76936224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191454785	chr2:76936226-76936227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367883791	chr2:76936229-76936230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183295469	chr2:76936237-76936238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566697238	chr2:76936250-76936251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188746166	chr2:76936276-76936277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114787504	chr2:76936321-76936322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11694778	chr2:76936386-76936387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536248544	chr2:76936432-76936433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113072172	chr2:76936452-76936453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567169849	chr2:76936465-76936466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141757238	chr2:76936467-76936468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192957678	chr2:76936468-76936469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560465753	chr2:76936479-76936480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6718373	chr2:76936498-76936499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542837318	chr2:76936499-76936500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561115728	chr2:76936500-76936501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188054625	chr2:76936507-76936508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534260082	chr2:76936514-76936515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559086055	chr2:76936518-76936519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549883468	chr2:76936567-76936568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150782406	chr2:76936571-76936572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532155097	chr2:76936606-76936607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191420493	chr2:76936619-76936620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139135996	chr2:76936630-76936631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76869138	chr2:76936661-76936662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74966558	chr2:76936665-76936666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35520776	chr2:76936680-76936681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201583263	chr2:76936681-76936682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374458887	chr2:76936682-76936683	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76937000-76937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:76955600-76956000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:76955600-76956200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:76955800-76956200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr2:76955800-76956200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:76956000-76957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:76956200-76957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:76956200-76957800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:76957400-76957600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links