Variant report

Variant	nsv979374
Chromosome Location	chr2:125107084-125122261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556478399	chr2:125107130-125107131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576702441	chr2:125107131-125107132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568231702	chr2:125107151-125107152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35336415	chr2:125107199-125107200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536142441	chr2:125107223-125107224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181129177	chr2:125107228-125107229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142943197	chr2:125107297-125107298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184615607	chr2:125107351-125107352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560294828	chr2:125107371-125107372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148679950	chr2:125107437-125107438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576972552	chr2:125107438-125107439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377160715	chr2:125107446-125107447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369557565	chr2:125107447-125107448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374509781	chr2:125107451-125107452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs70996061	chr2:125107452-125107453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75965299	chr2:125107480-125107481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545522464	chr2:125107500-125107501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113536401	chr2:125107508-125107509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531538421	chr2:125107520-125107521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150665665	chr2:125107524-125107525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139830368	chr2:125107565-125107566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34117183	chr2:125107574-125107575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386650002	chr2:125107577-125107578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372577571	chr2:125107578-125107579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570619207	chr2:125107636-125107637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60854804	chr2:125107702-125107703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111245470	chr2:125107706-125107707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576777428	chr2:125107755-125107756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549735944	chr2:125107758-125107759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535449339	chr2:125107764-125107765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368234764	chr2:125107918-125107919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7567224	chr2:125107948-125107949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs566332207	chr2:125108001-125108002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs779999	chr2:125108025-125108026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372122951	chr2:125108030-125108031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71641606	chr2:125108031-125108032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187642792	chr2:125108050-125108051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs779998	chr2:125108051-125108052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76777282	chr2:125108052-125108053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545863336	chr2:125108073-125108074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191957724	chr2:125108085-125108086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576002748	chr2:125108122-125108123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561354065	chr2:125108150-125108151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181009838	chr2:125108162-125108163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539449373	chr2:125108189-125108190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs796641	chr2:125108191-125108192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs11378065	chr2:125108208-125108209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140247591	chr2:125108311-125108312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115983630	chr2:125108342-125108343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7582767	chr2:125108364-125108365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125105200-125108800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:125108800-125109000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:125108800-125109600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:125109600-125109800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:125119400-125119800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr2:125119600-125120000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:125119600-125120000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:125119600-125120000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:125120000-125120200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links