Variant report

Variant	nsv511901
Chromosome Location	chr6:78426393-78436096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559774566	chr6:78426395-78426396	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576544818	chr6:78426465-78426466	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191240205	chr6:78426498-78426499	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545564041	chr6:78426513-78426514	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146332448	chr6:78426530-78426531	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182747132	chr6:78426535-78426536	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536595085	chr6:78426591-78426592	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531620226	chr6:78426593-78426594	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138269142	chr6:78426663-78426664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369050462	chr6:78426690-78426691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371305781	chr6:78426691-78426692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111704480	chr6:78426746-78426747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13219568	chr6:78426776-78426777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6940113	chr6:78426796-78426797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570926277	chr6:78426797-78426798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375702572	chr6:78436004-78436005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190216382	chr6:78436018-78436019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558041422	chr6:78436033-78436034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557239599	chr6:78436035-78436036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540141878	chr6:78436040-78436041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150926187	chr6:78436055-78436056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574033398	chr6:78436064-78436065	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78425600-78426600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:78425800-78426400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:78425800-78426400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:78425800-78426400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:78425800-78426800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:78425800-78426800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:78425800-78426800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:78426000-78426600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:78426000-78426800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:78426200-78426600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:78436000-78436400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:78436000-78436600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:78436000-78436600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:78436000-78436600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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