Variant report

Variant	nsv581800
Chromosome Location	chr2:49524316-49539245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6729203	chr2:49524316-49524317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186454696	chr2:49524340-49524341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544141969	chr2:49524365-49524366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144376902	chr2:49524386-49524387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538476443	chr2:49524436-49524437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556326241	chr2:49524443-49524444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564509767	chr2:49524474-49524475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6714445	chr2:49524478-49524479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189699190	chr2:49524495-49524496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553820668	chr2:49524507-49524508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375766583	chr2:49524530-49524531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572418257	chr2:49524531-49524532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527803741	chr2:49524545-49524546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542642393	chr2:49524550-49524551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546800324	chr2:49524570-49524571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562044802	chr2:49524578-49524579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573850075	chr2:49524588-49524589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11125231	chr2:49524601-49524602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116489809	chr2:49524643-49524644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533116412	chr2:49524684-49524685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539466999	chr2:49524694-49524695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551524496	chr2:49524711-49524712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560257580	chr2:49524722-49524723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141362674	chr2:49524734-49524735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548696853	chr2:49524736-49524737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111869705	chr2:49524752-49524753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567987251	chr2:49524794-49524795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557755491	chr2:49524922-49524923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150259591	chr2:49524924-49524925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550014790	chr2:49524933-49524934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567585953	chr2:49524943-49524944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571528401	chr2:49524945-49524946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368052693	chr2:49524947-49524948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75967245	chr2:49524949-49524950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553882043	chr2:49524952-49524953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73929136	chr2:49524997-49524998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536699450	chr2:49525001-49525002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148253248	chr2:49525016-49525017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554657312	chr2:49525018-49525019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73929137	chr2:49525081-49525082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544524094	chr2:49525114-49525115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182741565	chr2:49525136-49525137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577930999	chr2:49525167-49525168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545210325	chr2:49525179-49525180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560335260	chr2:49525180-49525181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377599087	chr2:49525184-49525185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115436286	chr2:49525272-49525273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542664379	chr2:49525284-49525285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560724026	chr2:49525285-49525286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13404758	chr2:49525349-49525350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49524200-49525800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:49525800-49526000	Enhancers	Brain Angular Gyrus	brain
3	chr2:49533800-49534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:49533800-49534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:49533800-49534800	Enhancers	HUVEC	blood vessel
6	chr2:49534000-49534400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:49534000-49534600	Enhancers	HepG2	liver

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