Variant report

Variant	nsv603318
Chromosome Location	chr6:62923203-62928237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16882220	chr6:62923203-62923204	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114200118	chr6:62923218-62923219	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559254648	chr6:62923235-62923236	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528304471	chr6:62923245-62923246	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150869377	chr6:62923291-62923292	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139416928	chr6:62923427-62923428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574290853	chr6:62923431-62923432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538404019	chr6:62923531-62923532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180721090	chr6:62923544-62923545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578216540	chr6:62923554-62923555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148038296	chr6:62923611-62923612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9454651	chr6:62923633-62923634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558379	chr6:62923652-62923653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186025540	chr6:62923653-62923654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12199372	chr6:62923666-62923667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560132794	chr6:62923673-62923674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571942378	chr6:62923711-62923712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542317870	chr6:62923728-62923729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560609678	chr6:62923731-62923732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs517862	chr6:62923734-62923735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs517867	chr6:62923739-62923740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543185425	chr6:62923742-62923743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564910505	chr6:62923766-62923767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9363975	chr6:62923774-62923775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9351743	chr6:62923776-62923777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67482871	chr6:62923779-62923780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371375713	chr6:62923817-62923818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2049007	chr6:62923825-62923826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547367854	chr6:62923855-62923856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114045775	chr6:62923872-62923873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527680582	chr6:62923935-62923936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78952619	chr6:62923960-62923961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551320750	chr6:62923972-62923973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374400911	chr6:62923980-62923981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112199027	chr6:62923984-62923985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192178741	chr6:62924034-62924035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557192596	chr6:62924072-62924073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566055245	chr6:62924073-62924074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76746473	chr6:62924103-62924104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554167180	chr6:62924137-62924138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571749593	chr6:62924149-62924150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542200150	chr6:62924157-62924158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147677274	chr6:62924180-62924181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575753347	chr6:62924191-62924192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376211291	chr6:62924203-62924204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140695287	chr6:62924214-62924215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565096129	chr6:62924232-62924233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116099131	chr6:62924240-62924241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541360158	chr6:62924359-62924360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184012683	chr6:62924511-62924512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62921600-62929600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62923000-62923400	Enhancers	Hela-S3	cervix
3	chr6:62923200-62923400	Flanking Active TSS	A549	lung
4	chr6:62925200-62925400	Active TSS	Ovary	ovary

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