Variant report

Variant	nsv886190
Chromosome Location	chr6:76978303-77021978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76985163..76986079-chr6:77060919..77061636,2	MCF-7	breast:
2	chr6:76985498..76986021-chr6:77586428..77587326,2	MCF-7	breast:
3	chr6:76995828..76996453-chr9:120157824..120158612,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9294012	chr6:76978303-76978304	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192925940	chr6:76978309-76978310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148670031	chr6:76978323-76978324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575948603	chr6:76978334-76978335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185657105	chr6:76978339-76978340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371509042	chr6:76978341-76978342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555406049	chr6:76978349-76978350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75037311	chr6:76978351-76978352	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77588095	chr6:76978366-76978367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113090032	chr6:76978371-76978372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189649308	chr6:76978386-76978387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564326675	chr6:76978392-76978393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531701353	chr6:76978408-76978409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369290633	chr6:76978428-76978429	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550019880	chr6:76978461-76978462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568247797	chr6:76978489-76978490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529323844	chr6:76978519-76978520	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191349902	chr6:76978526-76978527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12207018	chr6:76978541-76978542	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374887883	chr6:76978560-76978561	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183922332	chr6:76978574-76978575	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs143414935	chr6:76978575-76978576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188347587	chr6:76978583-76978584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201537983	chr6:76978805-76978806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144284573	chr6:76978812-76978813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77078450	chr6:76978899-76978900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151039630	chr6:76978905-76978906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545470220	chr6:76978935-76978936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186364681	chr6:76978949-76978950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190199844	chr6:76978960-76978961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181894886	chr6:76978971-76978972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113575351	chr6:76978972-76978973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78445094	chr6:76978989-76978990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368358134	chr6:76979004-76979005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547442506	chr6:76979006-76979007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77529738	chr6:76979013-76979014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548403721	chr6:76979025-76979026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187279825	chr6:76979055-76979056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568375547	chr6:76979097-76979098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569963220	chr6:76979098-76979099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536945247	chr6:76979114-76979115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114600926	chr6:76979120-76979121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62430430	chr6:76979131-76979132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534710809	chr6:76979171-76979172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553075254	chr6:76979186-76979187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567804571	chr6:76979202-76979203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572691810	chr6:76979226-76979227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191022024	chr6:76979293-76979294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558044836	chr6:76979379-76979380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547619570	chr6:76979389-76979390	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76978200-76978600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:76978800-76979800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:77018000-77018200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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