Variant report

Variant	nsv527059
Chromosome Location	chr2:49305933-49321164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543828665	chr2:49307419-49307420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558513411	chr2:49307426-49307427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149170424	chr2:49307471-49307472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376405231	chr2:49307472-49307473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188437221	chr2:49307480-49307481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559925149	chr2:49307499-49307500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527521519	chr2:49307530-49307531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2349712	chr2:49307586-49307587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561063891	chr2:49307617-49307618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531289066	chr2:49307652-49307653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549814725	chr2:49307678-49307679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116363374	chr2:49307695-49307696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61343563	chr2:49307730-49307731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146694475	chr2:49307734-49307735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181333179	chr2:49307739-49307740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186473367	chr2:49307795-49307796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548473788	chr2:49307797-49307798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570168488	chr2:49307805-49307806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374457314	chr2:49307819-49307820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79789760	chr2:49307829-49307830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57214069	chr2:49307880-49307881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139247681	chr2:49307886-49307887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576785546	chr2:49307898-49307899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534688069	chr2:49307925-49307926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61127120	chr2:49307948-49307949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73931522	chr2:49308004-49308005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73931523	chr2:49308025-49308026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560882978	chr2:49308049-49308050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576106829	chr2:49308128-49308129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547959065	chr2:49308135-49308136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543493147	chr2:49308152-49308153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564885517	chr2:49308167-49308168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141855404	chr2:49308194-49308195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559635612	chr2:49308239-49308240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190170357	chr2:49308251-49308252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530211485	chr2:49308271-49308272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560025164	chr2:49308272-49308273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530314509	chr2:49308276-49308277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548781197	chr2:49308277-49308278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570122979	chr2:49308291-49308292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372244380	chr2:49308292-49308293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147124825	chr2:49308301-49308302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375535557	chr2:49308334-49308335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181511656	chr2:49308342-49308343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570609033	chr2:49308359-49308360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534723672	chr2:49308393-49308394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531740644	chr2:49308397-49308398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145100372	chr2:49308400-49308401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534245360	chr2:49319834-49319835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58517784	chr2:49319871-49319872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49307400-49308200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:49307400-49308200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:49307400-49308200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:49307600-49308400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:49307800-49308200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:49308000-49308400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:49319800-49331800	Weak transcription	Ovary	ovary

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