Variant report

Variant	esv3530704
Chromosome Location	chr14:85062135-85063013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559860968	chr14:85062140-85062141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76119963	chr14:85062149-85062150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12431610	chr14:85062150-85062151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559401398	chr14:85062184-85062185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183882097	chr14:85062206-85062207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561225105	chr14:85062208-85062209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187178876	chr14:85062223-85062224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146540859	chr14:85062234-85062235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571746144	chr14:85062243-85062244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571117244	chr14:85062247-85062248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533219632	chr14:85062261-85062262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192482915	chr14:85062262-85062263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141266081	chr14:85062298-85062299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183330547	chr14:85062413-85062414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368272376	chr14:85062434-85062435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555519542	chr14:85062465-85062466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537638906	chr14:85062578-85062579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371379309	chr14:85062644-85062645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376256194	chr14:85062649-85062650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371094973	chr14:85062662-85062663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201447192	chr14:85062663-85062664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374520606	chr14:85062664-85062665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369229616	chr14:85062673-85062674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371962204	chr14:85062679-85062680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12880457	chr14:85062680-85062681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377107384	chr14:85062681-85062682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368713646	chr14:85062687-85062688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371418694	chr14:85062695-85062696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374212799	chr14:85062701-85062702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369451588	chr14:85062702-85062703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372004182	chr14:85062709-85062710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377126423	chr14:85062713-85062714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374652444	chr14:85062715-85062716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368271800	chr14:85062724-85062725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372914367	chr14:85062725-85062726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376935935	chr14:85062731-85062732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552900468	chr14:85062737-85062738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369950179	chr14:85062738-85062739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567946254	chr14:85062745-85062746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538542721	chr14:85062752-85062753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372664565	chr14:85062753-85062754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369261313	chr14:85062762-85062763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543575679	chr14:85062767-85062768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375750814	chr14:85062769-85062770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372542796	chr14:85062770-85062771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71117731	chr14:85062785-85062786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376906782	chr14:85062787-85062788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370485763	chr14:85062796-85062797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199960209	chr14:85062799-85062800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201100281	chr14:85062800-85062801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85058800-85067200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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