Variant report

Variant	esv2351050
Chromosome Location	chr14:64793930-64794399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 61 )

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	rs542325015	chr14:64793947-64793948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147983374	chr14:64793961-64793962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572232518	chr14:64793971-64793972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112338759	chr14:64794016-64794017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554529620	chr14:64794036-64794037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141550031	chr14:64794042-64794043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543755357	chr14:64794050-64794051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564047050	chr14:64794082-64794083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369067422	chr14:64794124-64794125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61311897	chr14:64794148-64794149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58765415	chr14:64794149-64794150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532554463	chr14:64794151-64794152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58672927	chr14:64794158-64794159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56270823	chr14:64794200-64794201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56217314	chr14:64794201-64794202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56391401	chr14:64794208-64794209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55767709	chr14:64794216-64794217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs55951449	chr14:64794243-64794244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs56326879	chr14:64794256-64794257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146085080	chr14:64794270-64794271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140062151	chr14:64794275-64794276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561664794	chr14:64794323-64794324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185073194	chr14:64794370-64794371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189492504	chr14:64794392-64794393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64791200-64794000	Enhancers	Hela-S3	cervix
2	chr14:64792000-64803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:64792000-64803800	Weak transcription	Osteobl	bone
4	chr14:64794000-64803200	Weak transcription	Hela-S3	cervix

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