Variant report

Variant	nsv521038
Chromosome Location	chr6:80608294-80611616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545631097	chr6:80610425-80610426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142343032	chr6:80610430-80610431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531271625	chr6:80610438-80610439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572819599	chr6:80610501-80610502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561474136	chr6:80610549-80610550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146495456	chr6:80610564-80610565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4706814	chr6:80610573-80610574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4706815	chr6:80610592-80610593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533682735	chr6:80610626-80610627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550068780	chr6:80610654-80610655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570280747	chr6:80610696-80610697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535927121	chr6:80610716-80610717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79288035	chr6:80610720-80610721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111236032	chr6:80610726-80610727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4706816	chr6:80610750-80610751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139154237	chr6:80610768-80610769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2164166	chr6:80610839-80610840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562171919	chr6:80610840-80610841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372080350	chr6:80610849-80610850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555911611	chr6:80610885-80610886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575810863	chr6:80610889-80610890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541656070	chr6:80610901-80610902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370184343	chr6:80610926-80610927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558077828	chr6:80610927-80610928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189156625	chr6:80610982-80610983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540624599	chr6:80611034-80611035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9361575	chr6:80611081-80611082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533426268	chr6:80611093-80611094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36172884	chr6:80611145-80611146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550474574	chr6:80611208-80611209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377334505	chr6:80611272-80611273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202096482	chr6:80611273-80611274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560970631	chr6:80611300-80611301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144066910	chr6:80611364-80611365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149134066	chr6:80611381-80611382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148140527	chr6:80611389-80611390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565529076	chr6:80611426-80611427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529497656	chr6:80611443-80611444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367633189	chr6:80611468-80611469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549641935	chr6:80611478-80611479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539381024	chr6:80611515-80611516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181137736	chr6:80611527-80611528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551451567	chr6:80611577-80611578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1887571	chr6:80611616-80611617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80610400-80612600	Weak transcription	Esophagus	oesophagus

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