Variant report

Variant	nsv518443
Chromosome Location	chr2:21300770-21305587
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	rs570369843	chr2:21304813-21304814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539378048	chr2:21304921-21304922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190876153	chr2:21304933-21304934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138134739	chr2:21304935-21304936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs118032818	chr2:21304977-21304978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555577725	chr2:21304979-21304980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185066232	chr2:21304987-21304988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572176313	chr2:21305072-21305073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183424825	chr2:21305103-21305104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12477116	chr2:21305106-21305107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547108533	chr2:21305158-21305159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577170262	chr2:21305165-21305166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73920518	chr2:21305169-21305170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs61539677	chr2:21305195-21305196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185785594	chr2:21305200-21305201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73920519	chr2:21305232-21305233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143874215	chr2:21305238-21305239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114491865	chr2:21305257-21305258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547186342	chr2:21305337-21305338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564162754	chr2:21305372-21305373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76199838	chr2:21305381-21305382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532927094	chr2:21305419-21305420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549787742	chr2:21305523-21305524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11886946	chr2:21305587-21305588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21304800-21306200	Weak transcription	Aorta	Aorta

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