Variant report

Variant	esv3339572
Chromosome Location	chr6:69620331-69624529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9342738	chr6:69620351-69620352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62416441	chr6:69620373-69620374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192472306	chr6:69620387-69620388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533756405	chr6:69620414-69620415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552035502	chr6:69620428-69620429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573915569	chr6:69620434-69620435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542550399	chr6:69620438-69620439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562390770	chr6:69620446-69620447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9454647	chr6:69620466-69620467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544309474	chr6:69620479-69620480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570379971	chr6:69620518-69620519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564206424	chr6:69620521-69620522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184502545	chr6:69620556-69620557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546999344	chr6:69620562-69620563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373391324	chr6:69620594-69620595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560270834	chr6:69620672-69620673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377708100	chr6:69620729-69620730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529630605	chr6:69620734-69620735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549406710	chr6:69620736-69620737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569474265	chr6:69620750-69620751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188997339	chr6:69620773-69620774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57509635	chr6:69620791-69620792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571396652	chr6:69620834-69620835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185576361	chr6:69620853-69620854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148187975	chr6:69620865-69620866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533808078	chr6:69620870-69620871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573554127	chr6:69620871-69620872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554087006	chr6:69620873-69620874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189215670	chr6:69620889-69620890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181533070	chr6:69620897-69620898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186592438	chr6:69620916-69620917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141169832	chr6:69620924-69620925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558307806	chr6:69620931-69620932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578073347	chr6:69620954-69620955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192252973	chr6:69620958-69620959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560577899	chr6:69620962-69620963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529223400	chr6:69620970-69620971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76745412	chr6:69620976-69620977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538528679	chr6:69621250-69621251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558369240	chr6:69621255-69621256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182647044	chr6:69621264-69621265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71541121	chr6:69621265-69621266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13190995	chr6:69621266-69621267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543076198	chr6:69621274-69621275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145650671	chr6:69621275-69621276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186920835	chr6:69621290-69621291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61466569	chr6:69621311-69621312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545715550	chr6:69621312-69621313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397942415	chr6:69621321-69621322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565478430	chr6:69621327-69621328	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
Prostate cancer	16573809	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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69602800-69621000	Weak transcription	Fetal Lung	lung
2	chr6:69621200-69622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:69621400-69621800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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