Variant report

Variant	esv3345398
Chromosome Location	chr6:68247531-68250629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557051931	chr6:68250434-68250435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183629699	chr6:68250451-68250452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539478919	chr6:68250456-68250457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114611647	chr6:68250469-68250470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534442877	chr6:68250477-68250478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577423358	chr6:68250479-68250480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74509184	chr6:68250515-68250516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369264744	chr6:68250530-68250531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554521050	chr6:68250533-68250534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80043604	chr6:68250546-68250547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543625252	chr6:68250567-68250568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563400813	chr6:68250574-68250575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548022949	chr6:68250584-68250585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143350327	chr6:68250591-68250592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567054139	chr6:68250613-68250614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559307350	chr6:68250618-68250619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534158466	chr6:68250625-68250626	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68250400-68251200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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