Variant report

Variant	esv3428690
Chromosome Location	chr14:85740890-85741318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555756445	chr14:85740909-85740910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373278852	chr14:85740920-85740921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577291337	chr14:85740927-85740928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8008778	chr14:85740933-85740934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554831955	chr14:85740949-85740950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77362816	chr14:85740956-85740957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566990588	chr14:85740959-85740960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147183080	chr14:85740987-85740988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147620833	chr14:85740996-85740997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562222551	chr14:85741007-85741008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529647854	chr14:85741010-85741011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185598367	chr14:85741016-85741017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540489855	chr14:85741043-85741044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs33999974	chr14:85741054-85741055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189666639	chr14:85741062-85741063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144256970	chr14:85741112-85741113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182222809	chr14:85741123-85741124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527475426	chr14:85741135-85741136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8011992	chr14:85741163-85741164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs8012486	chr14:85741242-85741243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142500088	chr14:85741264-85741265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549320194	chr14:85741285-85741286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570921047	chr14:85741295-85741296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556732248	chr14:85741306-85741307	Weak transcription	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85740600-85745600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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