Variant report

Variant	esv3390907
Chromosome Location	chr14:85277949-85279947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184105599	chr14:85277952-85277953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551705949	chr14:85277991-85277992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35474333	chr14:85278019-85278020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566821858	chr14:85278025-85278026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567212419	chr14:85278058-85278059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555572723	chr14:85278092-85278093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567327538	chr14:85278130-85278131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142647927	chr14:85278154-85278155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112271388	chr14:85278168-85278169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561248962	chr14:85278181-85278182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187231903	chr14:85278197-85278198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34558058	chr14:85278199-85278200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151010649	chr14:85278225-85278226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557726591	chr14:85278279-85278280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573239436	chr14:85278284-85278285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374273756	chr14:85278296-85278297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540553505	chr14:85278323-85278324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10139127	chr14:85278343-85278344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556158916	chr14:85278422-85278423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191312710	chr14:85278446-85278447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544308345	chr14:85278546-85278547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562523801	chr14:85278552-85278553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183781260	chr14:85278594-85278595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113512903	chr14:85278601-85278602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12897277	chr14:85278647-85278648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566461030	chr14:85278660-85278661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111917136	chr14:85278668-85278669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572034129	chr14:85278669-85278670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567468659	chr14:85278695-85278696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545912371	chr14:85278699-85278700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557429896	chr14:85278795-85278796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190215887	chr14:85278865-85278866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539535154	chr14:85278875-85278876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564048463	chr14:85278882-85278883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12896851	chr14:85278903-85278904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12897836	chr14:85278904-85278905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572877497	chr14:85278920-85278921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540939653	chr14:85278922-85278923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372065310	chr14:85278931-85278932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532535413	chr14:85278936-85278937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2493906	chr14:85279004-85279005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182347416	chr14:85279079-85279080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563065804	chr14:85279132-85279133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577847631	chr14:85279136-85279137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185728886	chr14:85279142-85279143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560212015	chr14:85279150-85279151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369873949	chr14:85279211-85279212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562837429	chr14:85279231-85279232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61981186	chr14:85279240-85279241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549268297	chr14:85279243-85279244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85273200-85281800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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