Variant report

Variant	esv3460876
Chromosome Location	chr2:21648453-21648920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189217954	chr2:21648534-21648535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566201594	chr2:21648536-21648537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181905947	chr2:21648542-21648543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11897180	chr2:21648547-21648548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541485489	chr2:21648574-21648575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56412156	chr2:21648611-21648612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558237762	chr2:21648638-21648639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11895087	chr2:21648651-21648652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11890837	chr2:21648663-21648664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11890839	chr2:21648664-21648665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186589248	chr2:21648674-21648675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141744708	chr2:21648689-21648690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534763731	chr2:21648692-21648693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11897265	chr2:21648697-21648698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11897267	chr2:21648702-21648703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138644938	chr2:21648747-21648748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111491214	chr2:21648779-21648780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183808593	chr2:21648780-21648781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542539874	chr2:21648821-21648822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11898625	chr2:21648862-21648863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528070083	chr2:21648866-21648867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550963481	chr2:21648902-21648903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189668243	chr2:21648904-21648905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142939790	chr2:21648913-21648914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21646800-21690600	Weak transcription	Aorta	Aorta
2	chr2:21647200-21650400	Weak transcription	HepG2	liver
3	chr2:21647400-21650600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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