Variant report

Variant	esv3530368
Chromosome Location	chr14:85137199-85141497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145572434	chr14:85137269-85137270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560563095	chr14:85137270-85137271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1564525	chr14:85137336-85137337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542773817	chr14:85137343-85137344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187163254	chr14:85137394-85137395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549395153	chr14:85137420-85137421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531300081	chr14:85137485-85137486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549826608	chr14:85137494-85137495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371333187	chr14:85137502-85137503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565143876	chr14:85137512-85137513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116439426	chr14:85137517-85137518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547558856	chr14:85137531-85137532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35244246	chr14:85137536-85137537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565779882	chr14:85137585-85137586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565915209	chr14:85137588-85137589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148846135	chr14:85137640-85137641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567435485	chr14:85137646-85137647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142588704	chr14:85137655-85137656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367594745	chr14:85137724-85137725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199739110	chr14:85137728-85137729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61034270	chr14:85137729-85137730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79589725	chr14:85137730-85137731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199805289	chr14:85137734-85137735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556142037	chr14:85137735-85137736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200980090	chr14:85137736-85137737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191261689	chr14:85137747-85137748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545311988	chr14:85137757-85137758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554321456	chr14:85137767-85137768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367948057	chr14:85137795-85137796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183716543	chr14:85137799-85137800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150929215	chr14:85137817-85137818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34468123	chr14:85137844-85137845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75845777	chr14:85137847-85137848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140757777	chr14:85137880-85137881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144606862	chr14:85137894-85137895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534941451	chr14:85137946-85137947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564772235	chr14:85137978-85137979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532431672	chr14:85137997-85137998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78370727	chr14:85138046-85138047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559481719	chr14:85138050-85138051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529802391	chr14:85138055-85138056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28522540	chr14:85138056-85138057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398025993	chr14:85138063-85138064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567374082	chr14:85138091-85138092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543368746	chr14:85138118-85138119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193266266	chr14:85138130-85138131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550146207	chr14:85138136-85138137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571579669	chr14:85138294-85138295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539304477	chr14:85138331-85138332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7154245	chr14:85138332-85138333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85135600-85143600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:85137000-85138000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:85137000-85138400	Enhancers	Adipose Nuclei	Adipose

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