Variant report

Variant	nsv441758
Chromosome Location	chr2:56325446-56328028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545706872	chr2:56326014-56326015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149861833	chr2:56326015-56326016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113365086	chr2:56326040-56326041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147955575	chr2:56326045-56326046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376341925	chr2:56326124-56326125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80151366	chr2:56326185-56326186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561913049	chr2:56326187-56326188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558299156	chr2:56326223-56326224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530182367	chr2:56326240-56326241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543877174	chr2:56326271-56326272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3850354	chr2:56326296-56326297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs534265664	chr2:56326316-56326317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185329933	chr2:56326319-56326320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140083370	chr2:56326338-56326339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188244528	chr2:56326367-56326368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528785722	chr2:56326385-56326386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10177559	chr2:56326386-56326387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192961872	chr2:56326408-56326409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559230681	chr2:56326410-56326411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147802462	chr2:56326429-56326430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556981876	chr2:56326439-56326440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72798966	chr2:56326481-56326482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539003048	chr2:56326501-56326502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552859236	chr2:56326533-56326534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112188537	chr2:56326537-56326538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370514846	chr2:56326547-56326548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112425960	chr2:56326675-56326676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542109185	chr2:56326731-56326732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541720452	chr2:56326764-56326765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548028034	chr2:56326795-56326796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561805631	chr2:56326799-56326800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575381184	chr2:56326815-56326816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543569907	chr2:56326834-56326835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150940493	chr2:56326838-56326839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184670891	chr2:56326862-56326863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140696375	chr2:56326956-56326957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1432566	chr2:56327045-56327046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528822551	chr2:56327049-56327050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548844765	chr2:56327055-56327056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562157045	chr2:56327076-56327077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531103268	chr2:56327085-56327086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575210303	chr2:56327097-56327098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117623080	chr2:56327112-56327113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76091056	chr2:56327117-56327118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539140213	chr2:56327142-56327143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138727997	chr2:56327179-56327180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115204681	chr2:56327188-56327189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368070728	chr2:56327240-56327241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535419931	chr2:56327241-56327242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371235867	chr2:56327246-56327247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56326000-56326400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:56326400-56327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:56326800-56329200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:56327000-56327400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:56327200-56328000	Enhancers	Brain Hippocampus Middle	brain
6	chr2:56327800-56328000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:56327800-56328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:56328000-56329000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:56328000-56334800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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