Variant report

Variant	esv3429292
Chromosome Location	chr6:86048533-86050581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 103 )

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	rs114138217	chr6:86050033-86050034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550020172	chr6:86050056-86050057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs579309	chr6:86050080-86050081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538348642	chr6:86050090-86050091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534133965	chr6:86050091-86050092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142036667	chr6:86050105-86050106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567834012	chr6:86050160-86050161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535165622	chr6:86050212-86050213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556948776	chr6:86050214-86050215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188924766	chr6:86050269-86050270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575129957	chr6:86050283-86050284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569927570	chr6:86050340-86050341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73494337	chr6:86050350-86050351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs665331	chr6:86050415-86050416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs60968245	chr6:86050437-86050438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540455818	chr6:86050457-86050458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181661749	chr6:86050469-86050470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184632815	chr6:86050506-86050507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145657192	chr6:86050516-86050517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562946679	chr6:86050517-86050518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147726468	chr6:86050532-86050533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551321710	chr6:86050550-86050551	Weak transcription	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
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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86050000-86050200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:86050000-86050200	Enhancers	NHEK	skin
3	chr6:86050200-86054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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