Variant report

Variant	esv3431882
Chromosome Location	chr6:66562326-66570434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4317390	chr6:66567000-66567001	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180838709	chr6:66567004-66567005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538197522	chr6:66567013-66567014	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558172356	chr6:66567022-66567023	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572002347	chr6:66567023-66567024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116292055	chr6:66567051-66567052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567606882	chr6:66567075-66567076	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544175495	chr6:66567076-66567077	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574143139	chr6:66567136-66567137	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536577284	chr6:66567144-66567145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555393489	chr6:66567166-66567167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574990151	chr6:66567169-66567170	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556362104	chr6:66567192-66567193	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543846026	chr6:66567226-66567227	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371266293	chr6:66567283-66567284	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145529831	chr6:66567297-66567298	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35970600	chr6:66567302-66567303	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553276269	chr6:66567308-66567309	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529047002	chr6:66567309-66567310	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1938111	chr6:66567345-66567346	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371715450	chr6:66567347-66567348	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35510823	chr6:66567361-66567362	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183828361	chr6:66567386-66567387	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148840742	chr6:66567387-66567388	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Multiple myeloma	17550852	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66567000-66567400	Active TSS	Primary T cells from cord blood	blood
2	chr6:66567200-66567400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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