Variant report

Variant	nsv963176
Chromosome Location	chr2:141719773-141722999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs191160441	chr2:141719785-141719786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557615930	chr2:141719830-141719831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111873355	chr2:141719866-141719867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77146381	chr2:141719872-141719873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555166371	chr2:141719873-141719874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575337497	chr2:141719887-141719888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543633012	chr2:141719908-141719909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561511760	chr2:141719947-141719948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73964757	chr2:141719959-141719960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185790642	chr2:141719982-141719983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577530607	chr2:141719986-141719987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190311643	chr2:141720023-141720024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368389194	chr2:141720039-141720040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560095106	chr2:141720095-141720096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371010522	chr2:141720106-141720107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528475507	chr2:141720111-141720112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544128830	chr2:141720121-141720122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565452511	chr2:141720134-141720135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562028469	chr2:141720150-141720151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531060169	chr2:141720163-141720164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550814236	chr2:141720171-141720172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182133770	chr2:141720203-141720204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539257062	chr2:141720213-141720214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573146190	chr2:141720223-141720224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79712042	chr2:141720235-141720236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566475909	chr2:141720275-141720276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535095127	chr2:141720328-141720329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555375157	chr2:141720376-141720377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575154378	chr2:141720377-141720378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537911471	chr2:141720445-141720446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147897637	chr2:141720447-141720448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577467001	chr2:141720458-141720459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75915065	chr2:141720476-141720477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186740721	chr2:141720528-141720529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115785130	chr2:141720575-141720576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532809452	chr2:141720589-141720590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10928081	chr2:141720640-141720641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562082804	chr2:141720645-141720646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530823988	chr2:141720670-141720671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550618335	chr2:141720675-141720676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564241926	chr2:141720698-141720699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188884313	chr2:141720729-141720730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546429064	chr2:141720779-141720780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549102952	chr2:141720829-141720830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558057814	chr2:141720830-141720831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs398042723	chr2:141720838-141720839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566637314	chr2:141720839-141720840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557071592	chr2:141720840-141720841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535713469	chr2:141720872-141720873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147066966	chr2:141720884-141720885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141719600-141721400	Enhancers	Dnd41	blood
2	chr2:141719600-141722000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:141721400-141728400	Weak transcription	Dnd41	blood
4	chr2:141722400-141722600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:141722400-141722800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:141722600-141723000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:141722600-141723000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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