Variant report

Variant	nsv979295
Chromosome Location	chr2:125406438-125414016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs565200399	chr2:125406440-125406441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538922221	chr2:125406485-125406486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530398845	chr2:125406506-125406507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550529870	chr2:125406563-125406564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6748831	chr2:125406566-125406567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187643429	chr2:125406580-125406581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546766396	chr2:125406581-125406582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190467004	chr2:125406587-125406588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539234176	chr2:125406590-125406591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552557934	chr2:125406591-125406592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17011823	chr2:125406797-125406798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369839462	chr2:125406816-125406817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116065286	chr2:125406845-125406846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142859750	chr2:125406862-125406863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146583759	chr2:125406873-125406874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372611419	chr2:125406905-125406906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553851405	chr2:125406923-125406924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140969757	chr2:125406924-125406925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144783883	chr2:125406953-125406954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146741438	chr2:125406991-125406992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183374567	chr2:125407026-125407027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112023689	chr2:125407031-125407032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560866825	chr2:125407046-125407047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529719479	chr2:125407076-125407077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140390425	chr2:125407099-125407100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150387441	chr2:125407106-125407107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552059915	chr2:125407107-125407108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552713944	chr2:125407192-125407193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569384105	chr2:125407203-125407204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538520208	chr2:125407204-125407205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570065176	chr2:125407234-125407235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78531908	chr2:125407243-125407244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137891165	chr2:125407258-125407259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149465759	chr2:125407293-125407294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192378500	chr2:125407297-125407298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539584636	chr2:125407313-125407314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558708675	chr2:125407322-125407323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117898411	chr2:125407350-125407351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544473211	chr2:125407359-125407360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145845541	chr2:125407393-125407394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561687833	chr2:125407394-125407395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574454784	chr2:125407398-125407399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530346287	chr2:125407426-125407427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540251736	chr2:125407433-125407434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182982405	chr2:125407458-125407459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375827151	chr2:125407535-125407536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559919301	chr2:125407579-125407580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534360991	chr2:125407581-125407582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532217041	chr2:125407656-125407657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138739357	chr2:125407704-125407705	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125405600-125410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:125406800-125407200	Enhancers	Fetal Kidney	kidney
3	chr2:125407800-125408000	Enhancers	Pancreas	Pancrea
4	chr2:125409400-125410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:125409400-125410800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:125409800-125410800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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