Variant report

Variant	nsv1004582
Chromosome Location	chr2:189567944-189578821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183255356	chr2:189567982-189567983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149182991	chr2:189568063-189568064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187557712	chr2:189568067-189568068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191685873	chr2:189568090-189568091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527427803	chr2:189568135-189568136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184279797	chr2:189568140-189568141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571513773	chr2:189568163-189568164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567288411	chr2:189568193-189568194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369314816	chr2:189568236-189568237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537714404	chr2:189568237-189568238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143510937	chr2:189568317-189568318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147996009	chr2:189568394-189568395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188228027	chr2:189568488-189568489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192486140	chr2:189568491-189568492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185685964	chr2:189568521-189568522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190209599	chr2:189568540-189568541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534318948	chr2:189568544-189568545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555463875	chr2:189568564-189568565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182435800	chr2:189568614-189568615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539041500	chr2:189568678-189568679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13032584	chr2:189568700-189568701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556823777	chr2:189568789-189568790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185736562	chr2:189568823-189568824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577955848	chr2:189568826-189568827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557640491	chr2:189568845-189568846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545191359	chr2:189568915-189568916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560342951	chr2:189568936-189568937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189040070	chr2:189568972-189568973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537753289	chr2:189568973-189568974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1395866	chr2:189569061-189569062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs698559	chr2:189569075-189569076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531341019	chr2:189569170-189569171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181132720	chr2:189569183-189569184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571557071	chr2:189569203-189569204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201742394	chr2:189569246-189569247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532496476	chr2:189569270-189569271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547595246	chr2:189569288-189569289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142358334	chr2:189569345-189569346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534005521	chr2:189569392-189569393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555853940	chr2:189569398-189569399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144625671	chr2:189569410-189569411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200127449	chr2:189569424-189569425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200835141	chr2:189569425-189569426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201309821	chr2:189569446-189569447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538227002	chr2:189569447-189569448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556183049	chr2:189569489-189569490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554900974	chr2:189569560-189569561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577891972	chr2:189569578-189569579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573659824	chr2:189569677-189569678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138525572	chr2:189569681-189569682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189561200-189569400	Weak transcription	NHDF-Ad	bronchial
2	chr2:189567000-189570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:189569400-189570400	Enhancers	NHDF-Ad	bronchial
4	chr2:189570200-189570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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