Variant report

Variant	esv3339023
Chromosome Location	chr21:18343606-18346454
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	chr21:18346274..18348529-chr21:18641207..18644043,2	K562	blood:

Extended variants
information (count: 218 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537858358	chr21:18343608-18343609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200648952	chr21:18343617-18343618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202047962	chr21:18343622-18343623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377007537	chr21:18343624-18343625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374014435	chr21:18343627-18343628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550947089	chr21:18343635-18343636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571171031	chr21:18343658-18343659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202124050	chr21:18343672-18343673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571252471	chr21:18343679-18343680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187097063	chr21:18343686-18343687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539637207	chr21:18343687-18343688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192981961	chr21:18343691-18343692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138749898	chr21:18343697-18343698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375431611	chr21:18343700-18343701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185266910	chr21:18343711-18343712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188185814	chr21:18343712-18343713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368452714	chr21:18343716-18343717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371952356	chr21:18343717-18343718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370039230	chr21:18343720-18343721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193261999	chr21:18343732-18343733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558786488	chr21:18343738-18343739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200454392	chr21:18343744-18343745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184578224	chr21:18343763-18343764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117343324	chr21:18343786-18343787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141879022	chr21:18343789-18343790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555843924	chr21:18343804-18343805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575506721	chr21:18343807-18343808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544595140	chr21:18343810-18343811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564219397	chr21:18343812-18343813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188240784	chr21:18343821-18343822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540409976	chr21:18343828-18343829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560363969	chr21:18343847-18343848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180766981	chr21:18343851-18343852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543702270	chr21:18343863-18343864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184115448	chr21:18343877-18343878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372549876	chr21:18343903-18343904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376795326	chr21:18343909-18343910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201136284	chr21:18343912-18343913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548765239	chr21:18343916-18343917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562607113	chr21:18343935-18343936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189815832	chr21:18343964-18343965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375832050	chr21:18343982-18343983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370432871	chr21:18343984-18343985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181912414	chr21:18343989-18343990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186992327	chr21:18343994-18343995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191428038	chr21:18344015-18344016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368727543	chr21:18344020-18344021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199587842	chr21:18344025-18344026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372654672	chr21:18344026-18344027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570795003	chr21:18344027-18344028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	19651600	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18341200-18348600	Weak transcription	Muscle Satellite Cultured Cells	--

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