Variant report

Variant	nsv519494
Chromosome Location	chr6:69619007-69638504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69631911..69634740-chr6:69647956..69650887,2	K562	blood:
2	chr6:69626389..69628676-chr6:69629021..69631728,2	K562	blood:
3	chr6:69626389..69628676-chr6:69629021..69631728,2	K562	blood:

Extended variants
information (count: 188 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs386702397	chr6:69619007-69619008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6938903	chr6:69619010-69619011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527311363	chr6:69619035-69619036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556000550	chr6:69619036-69619037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530484997	chr6:69619042-69619043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12197269	chr6:69619043-69619044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564345891	chr6:69619047-69619048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533179313	chr6:69619053-69619054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114102430	chr6:69619086-69619087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79798924	chr6:69619089-69619090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528627374	chr6:69619106-69619107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548657373	chr6:69619149-69619150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568362462	chr6:69619150-69619151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151251635	chr6:69619182-69619183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182841834	chr6:69619192-69619193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570842227	chr6:69619235-69619236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539722049	chr6:69619276-69619277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553336500	chr6:69619301-69619302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188142438	chr6:69619363-69619364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541569223	chr6:69619368-69619369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192918178	chr6:69619412-69619413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549950747	chr6:69619424-69619425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369166672	chr6:69619453-69619454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9454645	chr6:69619463-69619464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs117918349	chr6:69619517-69619518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546519345	chr6:69619520-69619521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533297535	chr6:69619548-69619549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564502984	chr6:69619564-69619565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140482507	chr6:69619565-69619566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182431939	chr6:69619587-69619588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150422926	chr6:69619590-69619591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572346419	chr6:69619597-69619598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568515219	chr6:69619623-69619624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576492392	chr6:69619654-69619655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530893004	chr6:69619688-69619689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550597628	chr6:69619739-69619740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570504737	chr6:69619758-69619759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58011260	chr6:69619761-69619762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543768275	chr6:69619762-69619763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187427991	chr6:69619791-69619792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562042784	chr6:69619833-69619834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377354823	chr6:69619844-69619845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566961524	chr6:69619884-69619885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9454646	chr6:69619916-69619917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555190892	chr6:69619987-69619988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575437663	chr6:69620007-69620008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13216650	chr6:69620033-69620034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557824615	chr6:69620054-69620055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577707208	chr6:69620061-69620062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192024167	chr6:69620102-69620103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 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
4	chr6:69632000-69632800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:69632200-69632600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:69632200-69632800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:69632200-69632800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:69632200-69633000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:69632400-69632800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:69632400-69633000	Enhancers	HUES48 Cell Line	embryonic stem cell

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