Variant report

Variant	nsv525968
Chromosome Location	chr6:69618480-69638504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 210 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9294813	chr6:69618480-69618481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76374528	chr6:69618481-69618482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139290145	chr6:69618485-69618486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144118368	chr6:69618493-69618494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367707471	chr6:69618538-69618539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79287382	chr6:69618545-69618546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377435935	chr6:69618549-69618550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566007565	chr6:69618613-69618614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9446067	chr6:69618614-69618615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554696155	chr6:69618636-69618637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574775870	chr6:69618642-69618643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9454644	chr6:69618646-69618647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537354412	chr6:69618715-69618716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558174964	chr6:69618820-69618821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568026690	chr6:69618861-69618862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557183109	chr6:69618909-69618910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9446068	chr6:69618913-69618914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9446069	chr6:69618924-69618925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376362708	chr6:69618966-69618967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142251308	chr6:69618967-69618968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375018793	chr6:69618970-69618971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570091850	chr6:69619003-69619004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386702397	chr6:69619007-69619008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6938903	chr6:69619010-69619011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527311363	chr6:69619035-69619036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556000550	chr6:69619036-69619037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530484997	chr6:69619042-69619043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12197269	chr6:69619043-69619044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564345891	chr6:69619047-69619048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533179313	chr6:69619053-69619054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114102430	chr6:69619086-69619087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79798924	chr6:69619089-69619090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528627374	chr6:69619106-69619107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548657373	chr6:69619149-69619150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568362462	chr6:69619150-69619151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151251635	chr6:69619182-69619183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182841834	chr6:69619192-69619193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570842227	chr6:69619235-69619236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539722049	chr6:69619276-69619277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553336500	chr6:69619301-69619302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188142438	chr6:69619363-69619364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541569223	chr6:69619368-69619369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192918178	chr6:69619412-69619413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549950747	chr6:69619424-69619425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369166672	chr6:69619453-69619454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9454645	chr6:69619463-69619464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117918349	chr6:69619517-69619518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546519345	chr6:69619520-69619521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533297535	chr6:69619548-69619549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564502984	chr6:69619564-69619565	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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