Variant report

Variant	nsv827003
Chromosome Location	chr14:80070686-80071726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543779433	chr14:80070697-80070698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188645258	chr14:80070703-80070704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529727726	chr14:80070766-80070767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549402556	chr14:80070767-80070768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566410057	chr14:80070843-80070844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577666093	chr14:80070856-80070857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528648445	chr14:80070862-80070863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60892453	chr14:80070877-80070878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117728724	chr14:80070881-80070882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76313956	chr14:80070889-80070890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397947690	chr14:80070890-80070891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs221435	chr14:80070934-80070935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537562264	chr14:80070971-80070972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192971957	chr14:80071013-80071014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184772780	chr14:80071054-80071055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74638145	chr14:80071060-80071061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141378609	chr14:80071082-80071083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569613019	chr14:80071105-80071106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189556091	chr14:80071108-80071109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8009763	chr14:80071160-80071161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375797329	chr14:80071169-80071170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139502972	chr14:80071186-80071187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191244484	chr14:80071191-80071192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540226589	chr14:80071204-80071205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559753603	chr14:80071221-80071222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528810122	chr14:80071240-80071241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113203240	chr14:80071282-80071283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372382769	chr14:80071290-80071291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8010135	chr14:80071353-80071354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565455541	chr14:80071515-80071516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531161211	chr14:80071584-80071585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550785283	chr14:80071587-80071588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567754327	chr14:80071601-80071602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536215158	chr14:80071608-80071609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546989735	chr14:80071636-80071637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566402788	chr14:80071640-80071641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375358757	chr14:80071678-80071679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183837544	chr14:80071681-80071682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112606623	chr14:80071683-80071684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116552103	chr14:80071694-80071695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535389316	chr14:80071716-80071717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538089808	chr14:80071717-80071718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80064800-80074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:80065600-80072200	Weak transcription	NH-A	brain
3	chr14:80069000-80072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:80070200-80072200	Weak transcription	Fetal Lung	lung
5	chr14:80070400-80071400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:80071400-80076000	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links