Variant report

Variant	esv3458455
Chromosome Location	chr2:142788769-142789236
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	chr2:142781371..142784151-chr2:142786704..142789682,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577066858	chr2:142788772-142788773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186845878	chr2:142788813-142788814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113747230	chr2:142788839-142788840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536440152	chr2:142788870-142788871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2060591	chr2:142788893-142788894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560363480	chr2:142788899-142788900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376743214	chr2:142788900-142788901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200789595	chr2:142788902-142788903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2029143	chr2:142788903-142788904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527872126	chr2:142788904-142788905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542232808	chr2:142788905-142788906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201177357	chr2:142788906-142788907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199678560	chr2:142788907-142788908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3041462	chr2:142788917-142788918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561900694	chr2:142788946-142788947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13032654	chr2:142788948-142788949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13009553	chr2:142788954-142788955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113109381	chr2:142788959-142788960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550923483	chr2:142789039-142789040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537248943	chr2:142789053-142789054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564369979	chr2:142789054-142789055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10165482	chr2:142789062-142789063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183174737	chr2:142789070-142789071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552214708	chr2:142789094-142789095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76371326	chr2:142789147-142789148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566584246	chr2:142789151-142789152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535167566	chr2:142789166-142789167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549044834	chr2:142789169-142789170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534993233	chr2:142789182-142789183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202079855	chr2:142789205-142789206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142787800-142788800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:142788600-142790400	Weak transcription	NH-A	brain

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