Variant report

Variant	nsv1022379
Chromosome Location	chr6:81585449-81621295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 205 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181383261	chr6:81600650-81600651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73476343	chr6:81600652-81600653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186021978	chr6:81600724-81600725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373489233	chr6:81600750-81600751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1339390	chr6:81600752-81600753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189831676	chr6:81600791-81600792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541375482	chr6:81600811-81600812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73476349	chr6:81600876-81600877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532576381	chr6:81600895-81600896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9449173	chr6:81600908-81600909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562865630	chr6:81600936-81600937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563517198	chr6:81600943-81600944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531786120	chr6:81601023-81601024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548508942	chr6:81601053-81601054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568357341	chr6:81601061-81601062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12175409	chr6:81601078-81601079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12173877	chr6:81601097-81601098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12175410	chr6:81601114-81601115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530901644	chr6:81601115-81601116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12194204	chr6:81601121-81601122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200640902	chr6:81601125-81601126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372029710	chr6:81601128-81601129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140709639	chr6:81601131-81601132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12173887	chr6:81601143-81601144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570795084	chr6:81601164-81601165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539078013	chr6:81601166-81601167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201503703	chr6:81601180-81601181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13200969	chr6:81601182-81601183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12173889	chr6:81601189-81601190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199719272	chr6:81601190-81601191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13200642	chr6:81601193-81601194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143201462	chr6:81601209-81601210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569654886	chr6:81601217-81601218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535492445	chr6:81601227-81601228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77044244	chr6:81601232-81601233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200582338	chr6:81601233-81601234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200912675	chr6:81601234-81601235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55829712	chr6:81601235-81601236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367627316	chr6:81601236-81601237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181366461	chr6:81601239-81601240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9443845	chr6:81601242-81601243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115391867	chr6:81601246-81601247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561387743	chr6:81601278-81601279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145448554	chr6:81601326-81601327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148862287	chr6:81601361-81601362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545884177	chr6:81601363-81601364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112711502	chr6:81601394-81601395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531600463	chr6:81601396-81601397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542357675	chr6:81601421-81601422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73476352	chr6:81601473-81601474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81600600-81601800	Enhancers	Dnd41	blood
2	chr6:81600800-81601000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:81600800-81601600	Enhancers	Fetal Heart	heart
4	chr6:81601400-81601800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:81609800-81610200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:81612600-81613800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:81613800-81615000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:81615000-81615400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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