Variant report

Variant	nsv961310
Chromosome Location	chr2:34154521-34162996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577125427	chr2:34154523-34154524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145483006	chr2:34154533-34154534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547065510	chr2:34154560-34154561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72868141	chr2:34154593-34154594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529620146	chr2:34154659-34154660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553233012	chr2:34154706-34154707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72868143	chr2:34154719-34154720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62130355	chr2:34154737-34154738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114592263	chr2:34154790-34154791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565860486	chr2:34154804-34154805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188696281	chr2:34154807-34154808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181182794	chr2:34154813-34154814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185866771	chr2:34154815-34154816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112980784	chr2:34154858-34154859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536205259	chr2:34154862-34154863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556838051	chr2:34154911-34154912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117381160	chr2:34154923-34154924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549831636	chr2:34154972-34154973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367887635	chr2:34154991-34154992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148820813	chr2:34155005-34155006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563024688	chr2:34155007-34155008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572300484	chr2:34155025-34155026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574969288	chr2:34155083-34155084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115359629	chr2:34155110-34155111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560603938	chr2:34155112-34155113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145199067	chr2:34155125-34155126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528664737	chr2:34155140-34155141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543018872	chr2:34155151-34155152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112588037	chr2:34155152-34155153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532332928	chr2:34155168-34155169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552498144	chr2:34155169-34155170	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34154400-34155200	Enhancers	GM12878-XiMat	blood

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