Variant report

Variant	nsv564928
Chromosome Location	chr14:65606812-65607642
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	chr14:65600572..65603233-chr14:65606608..65608580,2	MCF-7	breast:
2	chr14:65600313..65602525-chr14:65607232..65610149,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77798920	chr14:65606900-65606901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577103598	chr14:65606928-65606929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139417541	chr14:65606981-65606982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145052122	chr14:65607065-65607066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112852727	chr14:65607181-65607182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546214987	chr14:65607213-65607214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185116620	chr14:65607214-65607215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573953427	chr14:65607217-65607218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61987430	chr14:65607220-65607221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536252490	chr14:65607234-65607235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559633961	chr14:65607255-65607256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556199671	chr14:65607256-65607257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75347017	chr14:65607263-65607264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79756903	chr14:65607265-65607266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576116872	chr14:65607282-65607283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374904325	chr14:65607423-65607424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35492323	chr14:65607424-65607425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564791736	chr14:65607472-65607473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573164326	chr14:65607483-65607484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372234437	chr14:65607484-65607485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528298809	chr14:65607554-65607555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147951253	chr14:65607582-65607583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548366904	chr14:65607586-65607587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561838883	chr14:65607620-65607621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73272693	chr14:65607629-65607630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17440070	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65605000-65609200	Weak transcription	Osteobl	bone
2	chr14:65605400-65608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:65605400-65609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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