Variant report

Variant	nsv525131
Chromosome Location	chr2:123936217-123958889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551471564	chr2:123937008-123937009	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374876878	chr2:123937019-123937020	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531057571	chr2:123937024-123937025	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116599671	chr2:123937042-123937043	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs137856980	chr2:123937073-123937074	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115859948	chr2:123937096-123937097	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548928330	chr2:123937116-123937117	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73951681	chr2:123937131-123937132	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534657059	chr2:123937142-123937143	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs557930606	chr2:123937156-123937157	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs143737775	chr2:123937172-123937173	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537283329	chr2:123937245-123937246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556955972	chr2:123937267-123937268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573854593	chr2:123937279-123937280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562876150	chr2:123937288-123937289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189672109	chr2:123937324-123937325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146081997	chr2:123937360-123937361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182336338	chr2:123937378-123937379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545097403	chr2:123937401-123937402	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs565079391	chr2:123937422-123937423	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs530994227	chr2:123937449-123937450	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs576772214	chr2:123937500-123937501	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs551126018	chr2:123937519-123937520	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs561338278	chr2:123937539-123937540	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs2419554	chr2:123937555-123937556	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148252200	chr2:123937567-123937568	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs565673617	chr2:123937597-123937598	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs528131685	chr2:123937614-123937615	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs2900921	chr2:123937621-123937622	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562241022	chr2:123937629-123937630	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs35178028	chr2:123937631-123937632	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536770887	chr2:123937637-123937638	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs576244156	chr2:123937641-123937642	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs567360159	chr2:123937679-123937680	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs536501954	chr2:123937684-123937685	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs76961113	chr2:123937709-123937710	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs572893558	chr2:123937711-123937712	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs561631924	chr2:123937723-123937724	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs545036416	chr2:123937734-123937735	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs192802684	chr2:123937792-123937793	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs575658972	chr2:123937814-123937815	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185198457	chr2:123937815-123937816	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2419555	chr2:123937869-123937870	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs188514126	chr2:123937926-123937927	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34633334	chr2:123937931-123937932	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141273831	chr2:123937958-123937959	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528068470	chr2:123937992-123937993	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150767866	chr2:123938001-123938002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373147268	chr2:123938020-123938021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192162979	chr2:123938034-123938035	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute myeloid leukemia	20729466	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123937000-123937200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:123937000-123937400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:123937000-123937400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:123937000-123937600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:123937000-123937600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:123937000-123937800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:123937000-123937800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:123937000-123937800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:123937200-123937400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:123937200-123937800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:123937400-123938000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr2:123937400-123938200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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