Variant report

Variant	esv3458257
Chromosome Location	chr2:125036511-125037213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567811228	chr2:125036553-125036554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533544460	chr2:125036558-125036559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72962897	chr2:125036571-125036572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74989293	chr2:125036599-125036600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149639685	chr2:125036604-125036605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549037644	chr2:125036617-125036618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576219445	chr2:125036681-125036682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377175559	chr2:125036707-125036708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548286790	chr2:125036756-125036757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10564494	chr2:125036802-125036803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145790399	chr2:125036813-125036814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398060514	chr2:125036824-125036825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200016280	chr2:125036825-125036826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186258792	chr2:125036826-125036827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146139047	chr2:125036872-125036873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527739386	chr2:125036909-125036910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6755697	chr2:125036924-125036925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs111898502	chr2:125036926-125036927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533481474	chr2:125036962-125036963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs707498	chr2:125037046-125037047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1030531	chr2:125037060-125037061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs371322470	chr2:125037074-125037075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116392028	chr2:125037105-125037106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567821696	chr2:125037153-125037154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367713928	chr2:125037175-125037176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533606500	chr2:125037191-125037192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553372720	chr2:125037208-125037209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125025800-125041200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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