Variant report

Variant	nsv213758
Chromosome Location	chr2:133322405-133322969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142010079	chr2:133322405-133322406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371950055	chr2:133322408-133322409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375067289	chr2:133322409-133322410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370048209	chr2:133322410-133322411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372769851	chr2:133322411-133322412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3109147	chr2:133322422-133322423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541444754	chr2:133322477-133322478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183608133	chr2:133322546-133322547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530234820	chr2:133322602-133322603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542345021	chr2:133322604-133322605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377188034	chr2:133322611-133322612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563708758	chr2:133322612-133322613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531185374	chr2:133322707-133322708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116265494	chr2:133322709-133322710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541724368	chr2:133322743-133322744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3115019	chr2:133322748-133322749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs3115018	chr2:133322757-133322758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78645337	chr2:133322761-133322762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535182521	chr2:133322785-133322786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557044984	chr2:133322787-133322788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368416519	chr2:133322869-133322870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539658579	chr2:133322873-133322874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188495967	chr2:133322892-133322893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12624113	chr2:133322919-133322920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs112186645	chr2:133322969-133322970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133322200-133324600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:133322200-133326200	Weak transcription	Pancreas	Pancrea
3	chr2:133322200-133328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:133322800-133326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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