Variant report

Variant	nsv526121
Chromosome Location	chr2:77297536-77305123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 317 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:317 , 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	rs528594425	chr2:77298636-77298637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114015396	chr2:77298637-77298638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546876928	chr2:77298643-77298644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568278188	chr2:77298670-77298671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535617046	chr2:77298687-77298688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182801710	chr2:77298720-77298721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550481606	chr2:77298721-77298722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568968304	chr2:77298758-77298759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144829186	chr2:77298819-77298820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148153176	chr2:77298837-77298838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72807214	chr2:77298912-77298913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187485035	chr2:77298928-77298929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369818077	chr2:77298982-77298983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72807215	chr2:77299012-77299013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563712574	chr2:77299019-77299020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192931784	chr2:77299064-77299065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545933261	chr2:77299067-77299068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185569523	chr2:77299070-77299071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139651975	chr2:77299078-77299079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551921266	chr2:77299085-77299086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528462669	chr2:77299105-77299106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374787171	chr2:77299107-77299108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143985312	chr2:77299127-77299128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188785883	chr2:77299137-77299138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529186645	chr2:77299163-77299164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147169657	chr2:77299195-77299196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573765105	chr2:77299238-77299239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192557867	chr2:77299259-77299260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61316788	chr2:77299279-77299280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551147391	chr2:77299321-77299322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61197052	chr2:77299338-77299339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183963999	chr2:77299367-77299368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188594683	chr2:77299385-77299386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568446545	chr2:77299408-77299409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552852102	chr2:77299409-77299410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146104883	chr2:77299430-77299431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140355028	chr2:77299445-77299446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557536442	chr2:77299454-77299455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116011481	chr2:77299492-77299493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577525097	chr2:77299500-77299501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546295783	chr2:77299507-77299508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557943654	chr2:77299587-77299588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17406493	chr2:77299596-77299597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540665562	chr2:77299609-77299610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76429054	chr2:77299620-77299621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181386842	chr2:77299622-77299623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150727185	chr2:77299640-77299641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56050325	chr2:77299652-77299653	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532948760	chr2:77299665-77299666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551474602	chr2:77299711-77299712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77298600-77300000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:77299600-77300000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:77300000-77300200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:77300000-77311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:77300200-77300400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:77300400-77301800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:77301800-77302400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:77302400-77307400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:77303200-77303600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr2:77304000-77304600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:77304600-77307800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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