Variant report

Variant	nsv516829
Chromosome Location	chr14:84437385-84438074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1756291	chr14:84437385-84437386	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs530983409	chr14:84437394-84437395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145931053	chr14:84437413-84437414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560007408	chr14:84437418-84437419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188128615	chr14:84437487-84437488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377534703	chr14:84437492-84437493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548274725	chr14:84437499-84437500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577150840	chr14:84437535-84437536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143857606	chr14:84437540-84437541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549202496	chr14:84437561-84437562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537272379	chr14:84437578-84437579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1571647	chr14:84437663-84437664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146878623	chr14:84437707-84437708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139355593	chr14:84437731-84437732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539031576	chr14:84437769-84437770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150045687	chr14:84437825-84437826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567783535	chr14:84437879-84437880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528252367	chr14:84438007-84438008	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74071144	chr14:84438012-84438013	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs180726913	chr14:84438014-84438015	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs555068778	chr14:84438038-84438039	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145237385	chr14:84438052-84438053	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371056530	chr14:84438054-84438055	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1015277	chr14:84438074-84438075	Weak transcription Active TSS	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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84436200-84440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:84436600-84440000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:84436600-84442000	Weak transcription	Ovary	ovary
4	chr14:84436800-84438000	Weak transcription	Pancreas	Pancrea
5	chr14:84438000-84439600	Active TSS	Pancreas	Pancrea

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