Variant report

Variant	nsv9613
Chromosome Location	chr2:36391502-36393644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77828955	chr2:36391517-36391518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560396947	chr2:36391520-36391521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530075338	chr2:36391606-36391607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532551487	chr2:36391610-36391611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376024318	chr2:36391611-36391612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372614815	chr2:36391624-36391625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548595007	chr2:36391627-36391628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191117276	chr2:36391630-36391631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115600628	chr2:36391663-36391664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115557350	chr2:36391705-36391706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1167470	chr2:36391807-36391808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs80207927	chr2:36391833-36391834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144721556	chr2:36391838-36391839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112095664	chr2:36391847-36391848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527346602	chr2:36391854-36391855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72794394	chr2:36391855-36391856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370982161	chr2:36391863-36391864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151240282	chr2:36391883-36391884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554139038	chr2:36391905-36391906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140452948	chr2:36391909-36391910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539957024	chr2:36391934-36391935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548799229	chr2:36391970-36391971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564612551	chr2:36392005-36392006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17018379	chr2:36392018-36392019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs76638934	chr2:36392027-36392028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182205289	chr2:36392089-36392090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529999133	chr2:36392099-36392100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548458960	chr2:36392109-36392110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6713913	chr2:36392110-36392111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6713704	chr2:36392116-36392117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6713707	chr2:36392119-36392120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570901671	chr2:36392138-36392139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538087196	chr2:36392141-36392142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550337330	chr2:36392145-36392146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568704978	chr2:36392155-36392156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376133392	chr2:36392165-36392166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535746914	chr2:36392170-36392171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554012285	chr2:36392176-36392177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141348441	chr2:36392202-36392203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6713830	chr2:36392214-36392215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558403804	chr2:36392223-36392224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188753276	chr2:36392231-36392232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544126025	chr2:36392280-36392281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571909011	chr2:36392290-36392291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138965680	chr2:36392291-36392292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574642644	chr2:36392299-36392300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542160526	chr2:36392341-36392342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546691312	chr2:36392373-36392374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371752700	chr2:36392374-36392375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111909999	chr2:36392375-36392376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36391000-36394400	Enhancers	Liver	Liver
2	chr2:36391400-36392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:36391800-36393200	Enhancers	HepG2	liver
4	chr2:36392000-36392800	Enhancers	Fetal Intestine Small	intestine
5	chr2:36392400-36394000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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