Variant report

Variant	esv3364092
Chromosome Location	chr14:84577449-84579347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532409113	chr14:84577457-84577458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547346366	chr14:84577471-84577472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559799099	chr14:84577525-84577526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188455614	chr14:84577558-84577559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548779032	chr14:84577565-84577566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570183635	chr14:84577712-84577713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7146928	chr14:84577730-84577731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116678477	chr14:84577755-84577756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192717230	chr14:84577757-84577758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7148532	chr14:84577773-84577774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184719901	chr14:84577779-84577780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7147104	chr14:84577795-84577796	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535232848	chr14:84577866-84577867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556994120	chr14:84577936-84577937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370488891	chr14:84577962-84577963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200033800	chr14:84577966-84577967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34553383	chr14:84577967-84577968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147259621	chr14:84577974-84577975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367906931	chr14:84578030-84578031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115946260	chr14:84578046-84578047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564047130	chr14:84578089-84578090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112233352	chr14:84578133-84578134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572754612	chr14:84578198-84578199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200999204	chr14:84578295-84578296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34010006	chr14:84578304-84578305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201998693	chr14:84578305-84578306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576270294	chr14:84578306-84578307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34768583	chr14:84578315-84578316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376227759	chr14:84578321-84578322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370737103	chr14:84578322-84578323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374723991	chr14:84578323-84578324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541048749	chr14:84578327-84578328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565235072	chr14:84578421-84578422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151198322	chr14:84578429-84578430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12889947	chr14:84578549-84578550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs548441436	chr14:84578557-84578558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140148200	chr14:84578570-84578571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534996429	chr14:84578641-84578642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12890538	chr14:84578666-84578667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs79478026	chr14:84578685-84578686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17697043	chr14:84578730-84578731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs17697055	chr14:84578739-84578740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150335997	chr14:84578754-84578755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535427595	chr14:84578816-84578817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61010073	chr14:84578832-84578833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556816821	chr14:84578927-84578928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111560141	chr14:84578933-84578934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568891673	chr14:84578989-84578990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539251286	chr14:84579011-84579012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557502365	chr14:84579039-84579040	Enhancers	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
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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84577400-84578600	Weak transcription	HUVEC	blood vessel
2	chr14:84577400-84579600	Enhancers	Stomach Mucosa	stomach
3	chr14:84578600-84579800	Enhancers	HUVEC	blood vessel

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