Variant report

Variant	esv3424677
Chromosome Location	chr14:43492802-43496500
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	chr14:43489558..43491070-chr14:43492844..43494877,2	MCF-7	breast:
2	chr14:43487775..43490342-chr14:43492170..43494147,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567285399	chr14:43495434-43495435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371831554	chr14:43495441-43495442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529462946	chr14:43495484-43495485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549595226	chr14:43495498-43495499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77022785	chr14:43495517-43495518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77397002	chr14:43495566-43495567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539384417	chr14:43495575-43495576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369640593	chr14:43495598-43495599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185461203	chr14:43495600-43495601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532426488	chr14:43495635-43495636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569885122	chr14:43495650-43495651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537105982	chr14:43495728-43495729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555510714	chr14:43495779-43495780	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43495400-43495800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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