Variant report

Variant	esv3330293
Chromosome Location	chr6:141032459-141035657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77331397	chr6:141032464-141032465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78901289	chr6:141032465-141032466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538997611	chr6:141032472-141032473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2506871	chr6:141032499-141032500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2506870	chr6:141032522-141032523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536338204	chr6:141032567-141032568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550429824	chr6:141032591-141032592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573455878	chr6:141032599-141032600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2460954	chr6:141032609-141032610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs62431469	chr6:141032643-141032644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377598524	chr6:141032653-141032654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577880634	chr6:141032675-141032676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545314109	chr6:141032699-141032700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190264945	chr6:141032722-141032723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71562556	chr6:141032822-141032823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527322613	chr6:141032847-141032848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182514398	chr6:141032873-141032874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560966894	chr6:141032882-141032883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531891613	chr6:141032893-141032894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58534247	chr6:141032913-141032914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571841481	chr6:141032917-141032918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538951039	chr6:141032930-141032931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562890841	chr6:141032934-141032935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565733662	chr6:141032973-141032974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536250581	chr6:141032987-141032988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540369396	chr6:141032989-141032990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373692771	chr6:141033031-141033032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375628899	chr6:141033044-141033045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554604913	chr6:141033058-141033059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537119652	chr6:141033079-141033080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60795514	chr6:141033080-141033081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559846671	chr6:141033135-141033136	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
Hodgkin''s lymphoma	18641027	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141032000-141033200	Enhancers	Primary B cells from cord blood	blood
2	chr6:141032600-141032800	Enhancers	GM12878-XiMat	blood

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