Variant report

Variant	nsv7934
Chromosome Location	chr6:81299078-81303875
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	chr6:81298968..81300811-chr6:81302050..81303773,2	MCF-7	breast:
2	chr6:81298968..81300811-chr6:81302050..81303773,2	MCF-7	breast:

Extended variants
information (count: 197 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148697408	chr6:81299103-81299104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566450943	chr6:81299128-81299129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143464140	chr6:81299130-81299131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552252664	chr6:81299134-81299135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13219302	chr6:81299219-81299220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6940307	chr6:81299254-81299255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556468995	chr6:81299282-81299283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115807676	chr6:81299299-81299300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146669443	chr6:81299301-81299302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118108597	chr6:81299325-81299326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570236732	chr6:81299342-81299343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553795822	chr6:81299345-81299346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140209912	chr6:81299353-81299354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144048116	chr6:81299374-81299375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553716937	chr6:81299376-81299377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558588168	chr6:81299405-81299406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575326489	chr6:81299435-81299436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572090861	chr6:81299465-81299466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1377977	chr6:81299506-81299507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1377978	chr6:81299508-81299509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530268579	chr6:81299566-81299567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540888430	chr6:81299593-81299594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375875918	chr6:81299596-81299597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150968939	chr6:81299599-81299600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377415190	chr6:81299601-81299602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140777363	chr6:81299714-81299715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529206239	chr6:81299742-81299743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568916047	chr6:81299749-81299750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531411389	chr6:81299789-81299790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548014509	chr6:81299945-81299946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185961084	chr6:81299962-81299963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544528602	chr6:81299999-81300000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533768907	chr6:81300000-81300001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553985714	chr6:81300028-81300029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570423861	chr6:81300051-81300052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539390940	chr6:81300144-81300145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113119766	chr6:81300199-81300200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575264031	chr6:81300225-81300226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544680781	chr6:81300240-81300241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554783543	chr6:81300251-81300252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574950096	chr6:81300259-81300260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190840462	chr6:81300305-81300306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560706795	chr6:81300310-81300311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532849575	chr6:81300311-81300312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546545883	chr6:81300317-81300318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557169548	chr6:81300319-81300320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562451592	chr6:81300346-81300347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183894502	chr6:81300428-81300429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138884623	chr6:81300429-81300430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561630871	chr6:81300510-81300511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81294800-81317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81301600-81303000	Enhancers	Fetal Lung	lung
3	chr6:81302200-81302600	Enhancers	Pancreatic Islets	Pancreatic Islet

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