Variant report

Variant	nsv470492
Chromosome Location	chr2:142504502-142518602
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	chr2:142507099..142509499-chr2:142523507..142526473,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 61 )

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	rs368868870	chr2:142507270-142507271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569804393	chr2:142507282-142507283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141285213	chr2:142507288-142507289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370797999	chr2:142507321-142507322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73963593	chr2:142507324-142507325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192458705	chr2:142507360-142507361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566315317	chr2:142507370-142507371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535239010	chr2:142507384-142507385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62168669	chr2:142507417-142507418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs62168670	chr2:142507423-142507424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375641783	chr2:142507426-142507427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535070863	chr2:142507513-142507514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1437338	chr2:142507524-142507525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577615168	chr2:142507555-142507556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546496888	chr2:142507571-142507572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560121770	chr2:142507574-142507575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145008234	chr2:142507589-142507590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184715138	chr2:142507609-142507610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540132156	chr2:142507666-142507667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562311331	chr2:142507670-142507671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558527899	chr2:142507675-142507676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188040474	chr2:142507703-142507704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373478920	chr2:142507730-142507731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180896720	chr2:142507731-142507732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186079864	chr2:142507734-142507735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189746874	chr2:142507763-142507764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535364649	chr2:142507784-142507785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555233549	chr2:142507789-142507790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569076549	chr2:142507795-142507796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537542844	chr2:142507799-142507800	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142507200-142507600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:142507200-142507800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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