Variant report

Variant	esv3388760
Chromosome Location	chr2:21796814-21799759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21795287..21797242-chr2:21800392..21801984,2	K562	blood:
2	chr2:21791624..21793589-chr2:21795689..21798528,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187727372	chr2:21796826-21796827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78052682	chr2:21796828-21796829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116131928	chr2:21796942-21796943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528672704	chr2:21796958-21796959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553543077	chr2:21797032-21797033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6739328	chr2:21797050-21797051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555628603	chr2:21797075-21797076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558762510	chr2:21797124-21797125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575511126	chr2:21797180-21797181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565571445	chr2:21797193-21797194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544625515	chr2:21797199-21797200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561324934	chr2:21797322-21797323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531151108	chr2:21797335-21797336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74485387	chr2:21797385-21797386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540623655	chr2:21797404-21797405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139816388	chr2:21797408-21797409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532665998	chr2:21797493-21797494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552382622	chr2:21797495-21797496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370803015	chr2:21797502-21797503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562697913	chr2:21797547-21797548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2194567	chr2:21797578-21797579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548147617	chr2:21797591-21797592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191398709	chr2:21797666-21797667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143114222	chr2:21797702-21797703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533529234	chr2:21797711-21797712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573652393	chr2:21797787-21797788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148860584	chr2:21797817-21797818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539175033	chr2:21797950-21797951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142554463	chr2:21797957-21797958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575472511	chr2:21797964-21797965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538441856	chr2:21797969-21797970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6547423	chr2:21797972-21797973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151097174	chr2:21797984-21797985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141029071	chr2:21798284-21798285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1477471	chr2:21798335-21798336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367929538	chr2:21798338-21798339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1477472	chr2:21798347-21798348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1477473	chr2:21798356-21798357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538804410	chr2:21798410-21798411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17042603	chr2:21798418-21798419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183007140	chr2:21798426-21798427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542033276	chr2:21798497-21798498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563310346	chr2:21798549-21798550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561801779	chr2:21798576-21798577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10211154	chr2:21798598-21798599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546966432	chr2:21798689-21798690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570161277	chr2:21798696-21798697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532855023	chr2:21798710-21798711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549424052	chr2:21798711-21798712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6743443	chr2:21798729-21798730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21790600-21804800	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links