Variant report

Variant	nsv458252
Chromosome Location	chr2:76941049-76947356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 331 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1519998	chr2:76941049-76941050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374101523	chr2:76941100-76941101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560352080	chr2:76941130-76941131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572293125	chr2:76941141-76941142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542313156	chr2:76941161-76941162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368155971	chr2:76941209-76941210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2037352	chr2:76941223-76941224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145849129	chr2:76941233-76941234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191882139	chr2:76941256-76941257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556737019	chr2:76941257-76941258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564567630	chr2:76941306-76941307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533431043	chr2:76941307-76941308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370288216	chr2:76941322-76941323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13422578	chr2:76941359-76941360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368562539	chr2:76941361-76941362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566676747	chr2:76941362-76941363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534413350	chr2:76941378-76941379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545321529	chr2:76941394-76941395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372245721	chr2:76941436-76941437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184361237	chr2:76941446-76941447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143739247	chr2:76941465-76941466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62170414	chr2:76941470-76941471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556579553	chr2:76941553-76941554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189189474	chr2:76941559-76941560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571682116	chr2:76941594-76941595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377757511	chr2:76941595-76941596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114798283	chr2:76941610-76941611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111602673	chr2:76941680-76941681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181947638	chr2:76941734-76941735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572107424	chr2:76941740-76941741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542801313	chr2:76941741-76941742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554516960	chr2:76941745-76941746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185663847	chr2:76941753-76941754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576066157	chr2:76941763-76941764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150960391	chr2:76941764-76941765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7561559	chr2:76941792-76941793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532003151	chr2:76941832-76941833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112297653	chr2:76941841-76941842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377002063	chr2:76941940-76941941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77525596	chr2:76941979-76941980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373075180	chr2:76941983-76941984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111257095	chr2:76941990-76941991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181037537	chr2:76941991-76941992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533921267	chr2:76942032-76942033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369281984	chr2:76942041-76942042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573604938	chr2:76942043-76942044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62170415	chr2:76942172-76942173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140947525	chr2:76942180-76942181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35730520	chr2:76942200-76942201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186538072	chr2:76942234-76942235	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:3 , 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	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet

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