Variant report

Variant	esv2763251
Chromosome Location	chr21:28839284-28845401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
2	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
3	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:

Extended variants
information (count: 262 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538498276	chr21:28839471-28839472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138967889	chr21:28839486-28839487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568764674	chr21:28839527-28839528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs456874	chr21:28839532-28839533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554446689	chr21:28839534-28839535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576972522	chr21:28839535-28839536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554355407	chr21:28839549-28839550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77068778	chr21:28839550-28839551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2830960	chr21:28839569-28839570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7281942	chr21:28839609-28839610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs466585	chr21:28839613-28839614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148998385	chr21:28839629-28839630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370198696	chr21:28839646-28839647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563944815	chr21:28839673-28839674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367583635	chr21:28839701-28839702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143457490	chr21:28839821-28839822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552271786	chr21:28839825-28839826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531449056	chr21:28839842-28839843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374535678	chr21:28839855-28839856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562678390	chr21:28839862-28839863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371381982	chr21:28839901-28839902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79433503	chr21:28839910-28839911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548611103	chr21:28839973-28839974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568651780	chr21:28839998-28839999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192782958	chr21:28840052-28840053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547964211	chr21:28840081-28840082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571076749	chr21:28840093-28840094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76289483	chr21:28840095-28840096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556275717	chr21:28840101-28840102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374714123	chr21:28840122-28840123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368005124	chr21:28840125-28840126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576160230	chr21:28840169-28840170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183469962	chr21:28840173-28840174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531234615	chr21:28840177-28840178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535099118	chr21:28840178-28840179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543874935	chr21:28840179-28840180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115690862	chr21:28840188-28840189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572203382	chr21:28840195-28840196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116378152	chr21:28840234-28840235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28570402	chr21:28840247-28840248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557498220	chr21:28840249-28840250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188196711	chr21:28840262-28840263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2011608	chr21:28840296-28840297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192362079	chr21:28840305-28840306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184777491	chr21:28840306-28840307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541817682	chr21:28840310-28840311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573996881	chr21:28840411-28840412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs242297	chr21:28840423-28840424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527949726	chr21:28840447-28840448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190508764	chr21:28840524-28840525	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	18160780	CNVD
Mental retardation	17621639	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28839400-28841400	Enhancers	Fetal Lung	lung
2	chr21:28839600-28839800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr21:28841400-28848400	Weak transcription	Fetal Lung	lung
4	chr21:28845000-28847400	Enhancers	Fetal Heart	heart

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