Variant report

Variant	nsv829419
Chromosome Location	chr2:53358893-53359539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17267769	chr2:53358905-53358906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189934992	chr2:53358907-53358908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2034254	chr2:53358953-53358954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs181661399	chr2:53358986-53358987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550419128	chr2:53359009-53359010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570169075	chr2:53359012-53359013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78769090	chr2:53359017-53359018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551188208	chr2:53359079-53359080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571413877	chr2:53359109-53359110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186856633	chr2:53359120-53359121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79636160	chr2:53359127-53359128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78389084	chr2:53359136-53359137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536573852	chr2:53359167-53359168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72797270	chr2:53359200-53359201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371105876	chr2:53359226-53359227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17189196	chr2:53359231-53359232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72904121	chr2:53359243-53359244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558471558	chr2:53359279-53359280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572249431	chr2:53359284-53359285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189926167	chr2:53359344-53359345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1900247	chr2:53359345-53359346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs137975479	chr2:53359354-53359355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530000186	chr2:53359362-53359363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533299905	chr2:53359372-53359373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181236550	chr2:53359377-53359378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540395319	chr2:53359393-53359394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554086282	chr2:53359397-53359398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185038708	chr2:53359440-53359441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189894066	chr2:53359458-53359459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573958577	chr2:53359476-53359477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566260419	chr2:53359522-53359523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72906085	chr2:53359538-53359539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53338400-53362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53354600-53360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:53356600-53359000	Enhancers	Osteobl	bone
4	chr2:53356600-53359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:53356600-53359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:53356600-53359200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:53356600-53359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:53356600-53359200	Enhancers	Hela-S3	cervix
9	chr2:53356600-53359200	Enhancers	HSMM	muscle
10	chr2:53356600-53359200	Enhancers	HSMMtube	muscle
11	chr2:53356600-53359400	Enhancers	HMEC	breast
12	chr2:53356600-53359400	Enhancers	NHEK	skin
13	chr2:53356800-53359200	Enhancers	NHDF-Ad	bronchial
14	chr2:53356800-53359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:53357000-53359200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:53357400-53359200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:53357400-53359400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:53357800-53362000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:53358000-53360200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:53358200-53359200	Enhancers	NH-A	brain
21	chr2:53358400-53359200	Enhancers	HUVEC	blood vessel
22	chr2:53358800-53359200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:53358800-53359200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:53358800-53359200	Enhancers	NHLF	lung
25	chr2:53358800-53362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:53359000-53359200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:53359200-53360200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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