Variant report

Variant	nsv581458
Chromosome Location	chr2:35990627-36004618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 388 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4670494	chr2:35990627-35990628	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566397292	chr2:35990635-35990636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558143771	chr2:35990850-35990851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150167682	chr2:35990856-35990857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs111850198	chr2:35990858-35990859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536210492	chr2:35990865-35990866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138666428	chr2:35990905-35990906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs562226990	chr2:35990921-35990922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112615821	chr2:35990985-35990986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs35513259	chr2:35990986-35990987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs397943393	chr2:35990998-35990999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113765080	chr2:35991001-35991002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181381054	chr2:35991006-35991007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533778884	chr2:35991038-35991039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185914517	chr2:35991050-35991051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34984480	chr2:35991102-35991103	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34451749	chr2:35991114-35991115	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140363173	chr2:35991127-35991128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs145046549	chr2:35991152-35991153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs558272929	chr2:35991234-35991235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113002541	chr2:35991251-35991252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531225216	chr2:35991306-35991307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs138892366	chr2:35991368-35991369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549452625	chr2:35991379-35991380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568177823	chr2:35991512-35991513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149383308	chr2:35991520-35991521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs183368058	chr2:35991521-35991522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114646952	chr2:35991531-35991532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs4670495	chr2:35991565-35991566	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188100863	chr2:35991588-35991589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545438192	chr2:35997017-35997018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181688618	chr2:35997018-35997019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369040568	chr2:35997026-35997027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373235569	chr2:35997041-35997042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185640543	chr2:35997067-35997068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200545184	chr2:35997083-35997084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549753531	chr2:35997100-35997101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370110880	chr2:35997115-35997116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374093499	chr2:35997136-35997137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144788292	chr2:35997142-35997143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547693378	chr2:35997156-35997157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139454680	chr2:35997189-35997190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539834654	chr2:35997190-35997191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551759607	chr2:35997200-35997201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569953352	chr2:35997212-35997213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538670912	chr2:35997238-35997239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537523062	chr2:35997243-35997244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149674096	chr2:35997281-35997282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188832537	chr2:35997310-35997311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534912433	chr2:35997312-35997313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35990600-35991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35997000-36004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:36004600-36005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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