Variant report

Variant	nsv818440
Chromosome Location	chr6:82120647-82133785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142973074	chr6:82123012-82123013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187104260	chr6:82123017-82123018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9361813	chr6:82123080-82123081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539573472	chr6:82123109-82123110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568076953	chr6:82123115-82123116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74476850	chr6:82123145-82123146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557702184	chr6:82123159-82123160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571040938	chr6:82123255-82123256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553805522	chr6:82123259-82123260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577205748	chr6:82123271-82123272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546157991	chr6:82123317-82123318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556377102	chr6:82123319-82123320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202110909	chr6:82123335-82123336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78455098	chr6:82123348-82123349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561393690	chr6:82123382-82123383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191169159	chr6:82123389-82123390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372529280	chr6:82123454-82123455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139681310	chr6:82123467-82123468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181561456	chr6:82123470-82123471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186263658	chr6:82123521-82123522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375497814	chr6:82123529-82123530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149764698	chr6:82123531-82123532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146821462	chr6:82123547-82123548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115721202	chr6:82123650-82123651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533696269	chr6:82123685-82123686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553793110	chr6:82123687-82123688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570495666	chr6:82123695-82123696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372209690	chr6:82123748-82123749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74566308	chr6:82123763-82123764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555265906	chr6:82123799-82123800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183798896	chr6:82128815-82128816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187940468	chr6:82128860-82128861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569806040	chr6:82128871-82128872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193005168	chr6:82128895-82128896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7741650	chr6:82128917-82128918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs558588997	chr6:82128918-82128919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184177329	chr6:82128955-82128956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537804818	chr6:82128962-82128963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554318273	chr6:82129141-82129142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188117210	chr6:82129152-82129153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191481617	chr6:82129153-82129154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184789985	chr6:82129173-82129174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549087907	chr6:82129176-82129177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549065084	chr6:82129218-82129219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546035964	chr6:82129297-82129298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189607844	chr6:82129302-82129303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567675584	chr6:82129368-82129369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs724931	chr6:82129371-82129372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181702005	chr6:82129388-82129389	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82123000-82123600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:82123200-82123800	Enhancers	Ovary	ovary
3	chr6:82128800-82129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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