Variant report

Variant	nsv582727
Chromosome Location	chr2:115538962-115542066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12613758	chr2:115538962-115538963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567686215	chr2:115538982-115538983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190238503	chr2:115538993-115538994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556494975	chr2:115538994-115538995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141886021	chr2:115539018-115539019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369156675	chr2:115539025-115539026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180917002	chr2:115539054-115539055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570259116	chr2:115539055-115539056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17043547	chr2:115539056-115539057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568002139	chr2:115539074-115539075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12611551	chr2:115539077-115539078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572671507	chr2:115539082-115539083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184884703	chr2:115539090-115539091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150000797	chr2:115539140-115539141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574437858	chr2:115539180-115539181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543071946	chr2:115539195-115539196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563248226	chr2:115539221-115539222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532282106	chr2:115539260-115539261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545682483	chr2:115539299-115539300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112430544	chr2:115539320-115539321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145239541	chr2:115539358-115539359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190132485	chr2:115539433-115539434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148751657	chr2:115539452-115539453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79640941	chr2:115539463-115539464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570025552	chr2:115539491-115539492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10167728	chr2:115539506-115539507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181322352	chr2:115539600-115539601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566307738	chr2:115539634-115539635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs319845	chr2:115539685-115539686	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115624879	chr2:115539714-115539715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186331713	chr2:115539715-115539716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191991536	chr2:115539730-115539731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537107198	chr2:115539750-115539751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556722528	chr2:115539761-115539762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs319846	chr2:115539766-115539767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142402777	chr2:115539776-115539777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559238701	chr2:115539816-115539817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570658521	chr2:115539902-115539903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572773333	chr2:115539905-115539906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3036347	chr2:115539906-115539907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541665412	chr2:115539911-115539912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112821187	chr2:115539917-115539918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200336006	chr2:115539922-115539923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371885015	chr2:115539979-115539980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183360946	chr2:115540002-115540003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs319847	chr2:115540049-115540050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563559630	chr2:115540063-115540064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189118200	chr2:115540070-115540071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575311721	chr2:115540087-115540088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112800533	chr2:115540090-115540091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115538600-115539000	Enhancers	Brain Anterior Caudate	brain
2	chr2:115538600-115539000	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:115538600-115539400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:115538800-115539800	Enhancers	Brain Substantia Nigra	brain
5	chr2:115539000-115539600	Enhancers	Brain Hippocampus Middle	brain
6	chr2:115539000-115539800	Enhancers	Brain Angular Gyrus	brain
7	chr2:115539600-115539800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:115539600-115541400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:115539800-115545000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:115539800-115547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:115541200-115541600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:115541200-115541600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:115541200-115541800	Enhancers	Pancreas	Pancrea
14	chr2:115541400-115541600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:115541400-115542000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:115541400-115542000	Enhancers	Brain Hippocampus Middle	brain
17	chr2:115541600-115541800	Enhancers	Ovary	ovary
18	chr2:115541600-115542600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:115541600-115542800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:115541600-115546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:115541800-115542000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:115542000-115542400	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:115542000-115542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:115542000-115546600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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