Variant report

Variant	nsv961506
Chromosome Location	chr2:125437973-125440425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527847115	chr2:125438037-125438038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72845884	chr2:125438050-125438051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571108670	chr2:125438056-125438057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540180389	chr2:125438063-125438064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556585852	chr2:125438080-125438081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189980978	chr2:125438187-125438188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118119207	chr2:125438192-125438193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372591617	chr2:125438262-125438263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147595208	chr2:125438290-125438291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572514249	chr2:125438344-125438345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533703125	chr2:125438348-125438349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373485275	chr2:125438373-125438374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149621139	chr2:125438374-125438375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181892557	chr2:125438392-125438393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77293038	chr2:125438411-125438412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575603146	chr2:125438412-125438413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541825035	chr2:125438429-125438430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10183809	chr2:125438434-125438435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370447703	chr2:125438435-125438436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527381061	chr2:125438474-125438475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547668811	chr2:125438513-125438514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186101184	chr2:125438538-125438539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533649959	chr2:125438555-125438556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377660843	chr2:125438570-125438571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550470045	chr2:125438584-125438585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373747014	chr2:125438628-125438629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188218269	chr2:125438637-125438638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76064513	chr2:125438641-125438642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549364286	chr2:125438678-125438679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55960516	chr2:125438686-125438687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535160076	chr2:125438692-125438693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55858918	chr2:125438708-125438709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148379701	chr2:125438726-125438727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539269586	chr2:125438736-125438737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542429760	chr2:125438751-125438752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113358067	chr2:125438811-125438812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575941726	chr2:125438833-125438834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572433069	chr2:125438846-125438847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs70996097	chr2:125438898-125438899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541413617	chr2:125438921-125438922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561767347	chr2:125438928-125438929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572034222	chr2:125438946-125438947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56225280	chr2:125438976-125438977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151220664	chr2:125439014-125439015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541153911	chr2:125439029-125439030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564646685	chr2:125439033-125439034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141600141	chr2:125439090-125439091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541465012	chr2:125439110-125439111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185866083	chr2:125439163-125439164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564468782	chr2:125439164-125439165	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125436800-125439800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:125439800-125442600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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