Variant report

Variant	nsv962038
Chromosome Location	chr2:116093329-116100294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546551790	chr2:116099807-116099808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183980812	chr2:116099842-116099843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535599716	chr2:116099869-116099870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555822785	chr2:116099902-116099903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568993118	chr2:116099905-116099906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538021757	chr2:116099996-116099997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557787343	chr2:116100034-116100035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71418557	chr2:116100036-116100037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75782572	chr2:116100048-116100049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186097924	chr2:116100095-116100096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573674363	chr2:116100123-116100124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542396857	chr2:116100146-116100147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562586368	chr2:116100167-116100168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576155791	chr2:116100174-116100175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531036645	chr2:116100195-116100196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191000278	chr2:116100200-116100201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564637468	chr2:116100222-116100223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533402644	chr2:116100258-116100259	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116099800-116100400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links