Variant report

Variant	esv3458260
Chromosome Location	chr2:125651642-125659182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189817679	chr2:125655016-125655017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554769067	chr2:125655026-125655027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181912519	chr2:125655071-125655072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540144067	chr2:125655144-125655145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185103069	chr2:125655151-125655152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190444061	chr2:125655165-125655166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142929189	chr2:125655190-125655191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545433970	chr2:125655246-125655247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1840207	chr2:125655268-125655269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531457463	chr2:125655274-125655275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372784804	chr2:125655291-125655292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1840206	chr2:125655295-125655296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562317772	chr2:125655308-125655309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147343353	chr2:125655341-125655342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548009994	chr2:125655378-125655379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181829229	chr2:125655383-125655384	Enhancers	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
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
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125655000-125655200	Enhancers	Fetal Lung	lung
2	chr2:125655000-125655400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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