Variant report

Variant	esv3337357
Chromosome Location	chr14:80883399-80885347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2371290	chr14:80883422-80883423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536259277	chr14:80883426-80883427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555834661	chr14:80883441-80883442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554302209	chr14:80883454-80883455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569728882	chr14:80883455-80883456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200903919	chr14:80883456-80883457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139756496	chr14:80883474-80883475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558744936	chr14:80883499-80883500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182558026	chr14:80883542-80883543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10138306	chr14:80883643-80883644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115096767	chr14:80883652-80883653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114066134	chr14:80883696-80883697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369293867	chr14:80883698-80883699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79074571	chr14:80883707-80883708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563576325	chr14:80883712-80883713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10149250	chr14:80883728-80883729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545899840	chr14:80883770-80883771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36058238	chr14:80883775-80883776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10149514	chr14:80883795-80883796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10138490	chr14:80883798-80883799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190078762	chr14:80883822-80883823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529588097	chr14:80883870-80883871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548159679	chr14:80883941-80883942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76590536	chr14:80883943-80883944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111788057	chr14:80884049-80884050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558705995	chr14:80884052-80884053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570624138	chr14:80884098-80884099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182727246	chr14:80884167-80884168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369006172	chr14:80884170-80884171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71430707	chr14:80884181-80884182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60241837	chr14:80884183-80884184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57578661	chr14:80884185-80884186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58096409	chr14:80884187-80884188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60504274	chr14:80884189-80884190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549470650	chr14:80884191-80884192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28544161	chr14:80884209-80884210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57722102	chr14:80884211-80884212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113515629	chr14:80884213-80884214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111256501	chr14:80884215-80884216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377217756	chr14:80884253-80884254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534792955	chr14:80884262-80884263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111490663	chr14:80884295-80884296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371630518	chr14:80884367-80884368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574669978	chr14:80884428-80884429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187425525	chr14:80884555-80884556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557474238	chr14:80884580-80884581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79334074	chr14:80884583-80884584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567259329	chr14:80884651-80884652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377390930	chr14:80884722-80884723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192862614	chr14:80884725-80884726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80883400-80883600	Weak transcription	Stomach Mucosa	stomach
2	chr14:80883600-80883800	Enhancers	Stomach Mucosa	stomach
3	chr14:80883800-80885800	Weak transcription	Stomach Mucosa	stomach

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