Variant report

Variant	nsv1009850
Chromosome Location	chr2:76924371-76949552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1744 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1744 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370139428	chr2:76924376-76924377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180986816	chr2:76924378-76924379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184137572	chr2:76924414-76924415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533967311	chr2:76924454-76924455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548971603	chr2:76924459-76924460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552559676	chr2:76924475-76924476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150635721	chr2:76924482-76924483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189780748	chr2:76924501-76924502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138741754	chr2:76924510-76924511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538510794	chr2:76924521-76924522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374858276	chr2:76924557-76924558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571504579	chr2:76924602-76924603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367906866	chr2:76924632-76924633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181609384	chr2:76924651-76924652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553934426	chr2:76924666-76924667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186790260	chr2:76924678-76924679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11695613	chr2:76924679-76924680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368242212	chr2:76924688-76924689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190502839	chr2:76924696-76924697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549109508	chr2:76924716-76924717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181955233	chr2:76924718-76924719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11695530	chr2:76924724-76924725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186384283	chr2:76924739-76924740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189655972	chr2:76924747-76924748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62170373	chr2:76924757-76924758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115782999	chr2:76924766-76924767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572988107	chr2:76924784-76924785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527650135	chr2:76924802-76924803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533685559	chr2:76924813-76924814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557300872	chr2:76924822-76924823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567407228	chr2:76924831-76924832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558503151	chr2:76924834-76924835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531624551	chr2:76924846-76924847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146400551	chr2:76924849-76924850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182341293	chr2:76924852-76924853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571012414	chr2:76924880-76924881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139735535	chr2:76924891-76924892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553866759	chr2:76924892-76924893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565785467	chr2:76924895-76924896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144413278	chr2:76924926-76924927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369875916	chr2:76925002-76925003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62170374	chr2:76925017-76925018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186553783	chr2:76925049-76925050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562454006	chr2:76925099-76925100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144360267	chr2:76925108-76925109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556620322	chr2:76925129-76925130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148770122	chr2:76925132-76925133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191205779	chr2:76925137-76925138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183505354	chr2:76925139-76925140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527789298	chr2:76925149-76925150	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76906000-76926600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76916000-76927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76918600-76927600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:76925600-76925800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:76926600-76926800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:76927800-76928400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:76928000-76928400	Enhancers	Fetal Heart	heart
8	chr2:76928400-76934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:76934800-76935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:76934800-76936000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:76937000-76937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links