Variant report

Variant	nsv9160
Chromosome Location	chr14:85560301-85564548
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	chr14:85563318..85564867-chr14:85565112..85566756,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 65 )

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	rs547196430	chr14:85560303-85560304	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73320570	chr14:85560307-85560308	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536262257	chr14:85560321-85560322	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545187880	chr14:85560322-85560323	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371662840	chr14:85560360-85560361	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145196174	chr14:85560417-85560418	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566115152	chr14:85560433-85560434	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536931339	chr14:85560479-85560480	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190584787	chr14:85560495-85560496	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576987850	chr14:85560537-85560538	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376594241	chr14:85560561-85560562	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112135699	chr14:85560598-85560599	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183004039	chr14:85560606-85560607	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147619131	chr14:85560607-85560608	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61980974	chr14:85560622-85560623	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372232547	chr14:85560655-85560656	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542662061	chr14:85560749-85560750	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34614727	chr14:85560788-85560789	Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149051914	chr14:85560830-85560831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576360094	chr14:85560831-85560832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543773828	chr14:85560859-85560860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565543213	chr14:85560999-85561000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143094499	chr14:85561018-85561019	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369569734	chr14:85561059-85561060	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547929366	chr14:85561095-85561096	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186427028	chr14:85561128-85561129	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555217333	chr14:85561177-85561178	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529811310	chr14:85561201-85561202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148189799	chr14:85561235-85561236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76466065	chr14:85561237-85561238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534214731	chr14:85561324-85561325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569684917	chr14:85561358-85561359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537023236	chr14:85561445-85561446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567051831	chr14:85561481-85561482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552193485	chr14:85561487-85561488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200200121	chr14:85561492-85561493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113860936	chr14:85561525-85561526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534557780	chr14:85561540-85561541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191373667	chr14:85561585-85561586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547645286	chr14:85561617-85561618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142577846	chr14:85561623-85561624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375074910	chr14:85561624-85561625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71452994	chr14:85561643-85561644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560979820	chr14:85561652-85561653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10668985	chr14:85561655-85561656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536328341	chr14:85561660-85561661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74243885	chr14:85561662-85561663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576048631	chr14:85561677-85561678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140139891	chr14:85561703-85561704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565450393	chr14:85561826-85561827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85559400-85560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:85559400-85562000	Enhancers	Osteobl	bone
3	chr14:85559600-85560800	Strong transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:85560000-85560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:85560000-85560800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:85560200-85560400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:85560200-85560800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:85560400-85560600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:85560600-85560800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:85560800-85561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:85560800-85561000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:85560800-85561800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:85560800-85561800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:85560800-85562400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:85561000-85561200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:85561200-85561400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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