Variant report

Variant	esv2517554
Chromosome Location	chr6:142025849-142027308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12200138	chr6:142025855-142025856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182041394	chr6:142025880-142025881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534811325	chr6:142025916-142025917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186421728	chr6:142025921-142025922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189606075	chr6:142025925-142025926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114874544	chr6:142025934-142025935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552344021	chr6:142025948-142025949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112906916	chr6:142025982-142025983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557876036	chr6:142026220-142026221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572879417	chr6:142026266-142026267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375147586	chr6:142026288-142026289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375446891	chr6:142026318-142026319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540201936	chr6:142026345-142026346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180887895	chr6:142026467-142026468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185889618	chr6:142026492-142026493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116608976	chr6:142026497-142026498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10457725	chr6:142026511-142026512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12153875	chr6:142026514-142026515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552281283	chr6:142026542-142026543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8180666	chr6:142026555-142026556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191268423	chr6:142026594-142026595	Enhancers	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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142025400-142026000	Enhancers	Brain Germinal Matrix	brain
2	chr6:142026200-142026600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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