Variant report

Variant	esv3442561
Chromosome Location	chr14:84281599-84283497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:84282789..84284705-chr14:84293258..84295576,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372514021	chr14:84281601-84281602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150870924	chr14:84281603-84281604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188765932	chr14:84281611-84281612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181154554	chr14:84281633-84281634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534043249	chr14:84281634-84281635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187119164	chr14:84281684-84281685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370458015	chr14:84281710-84281711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112725344	chr14:84281720-84281721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189905625	chr14:84281726-84281727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1473046	chr14:84281739-84281740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546278582	chr14:84281773-84281774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1473045	chr14:84281819-84281820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115121684	chr14:84281830-84281831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547206897	chr14:84281865-84281866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182600151	chr14:84281876-84281877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562224510	chr14:84281914-84281915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199801468	chr14:84281940-84281941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113030623	chr14:84281988-84281989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527564305	chr14:84281998-84281999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79214394	chr14:84282012-84282013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34887989	chr14:84282111-84282112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58286647	chr14:84282121-84282122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551992268	chr14:84282183-84282184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568475442	chr14:84282184-84282185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547645893	chr14:84282224-84282225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532770342	chr14:84282233-84282234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551186108	chr14:84282252-84282253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570445737	chr14:84282269-84282270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532951323	chr14:84282288-84282289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566605251	chr14:84282408-84282409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570307521	chr14:84282418-84282419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533730608	chr14:84282419-84282420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187157637	chr14:84282433-84282434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561520152	chr14:84282488-84282489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537593627	chr14:84282527-84282528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374799700	chr14:84282540-84282541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35633313	chr14:84282602-84282603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538100512	chr14:84282614-84282615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1705662	chr14:84282660-84282661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575663284	chr14:84282716-84282717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573735477	chr14:84282786-84282787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546224177	chr14:84282822-84282823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190745065	chr14:84282830-84282831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143666311	chr14:84282842-84282843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182220820	chr14:84282843-84282844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569218988	chr14:84282863-84282864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368902050	chr14:84282939-84282940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113762200	chr14:84282947-84282948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529457767	chr14:84283038-84283039	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201866495	chr14:84283039-84283040	Enhancers Flanking Active TSS	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	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84280600-84284200	Enhancers	Hela-S3	cervix
2	chr14:84281400-84281600	Enhancers	Stomach Mucosa	stomach
3	chr14:84281400-84283000	Enhancers	HUVEC	blood vessel
4	chr14:84282000-84283000	Weak transcription	Stomach Mucosa	stomach
5	chr14:84282600-84283400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:84282800-84283400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:84283000-84283200	Flanking Active TSS	HUVEC	blood vessel
8	chr14:84283000-84283400	Enhancers	Fetal Heart	heart
9	chr14:84283000-84283600	Enhancers	Stomach Mucosa	stomach
10	chr14:84283200-84283400	Enhancers	HUVEC	blood vessel
11	chr14:84283400-84283600	Flanking Active TSS	HUVEC	blood vessel

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