Variant report

Variant	esv2760692
Chromosome Location	chr21:17084961-17091368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:17084081..17086628-chr21:17102246..17103996,2	K562	blood:
2	chr21:17086804..17089683-chr21:17199530..17202336,2	K562	blood:
3	chr21:17084590..17087490-chr21:17087588..17090287,2	K562	blood:
4	chr21:17083757..17086090-chr21:17088787..17091203,2	K562	blood:
5	chr21:17087926..17089918-chr21:17092657..17095382,2	K562	blood:
6	chr21:17084590..17087490-chr21:17087588..17090287,2	K562	blood:
7	chr21:17088463..17090416-chr21:17100632..17102945,2	MCF-7	breast:
8	chr21:17083757..17086090-chr21:17088787..17091203,2	K562	blood:
9	chr21:17087356..17090819-chr21:17092657..17096162,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155313	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563533679	chr21:17085014-17085015	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76694166	chr21:17085015-17085016	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551811019	chr21:17085018-17085019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565359930	chr21:17085061-17085062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528041258	chr21:17085077-17085078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76525321	chr21:17085084-17085085	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548154458	chr21:17085101-17085102	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540174255	chr21:17085102-17085103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568293673	chr21:17085103-17085104	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77026964	chr21:17085132-17085133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557201782	chr21:17085139-17085140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111795804	chr21:17085202-17085203	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539156252	chr21:17085224-17085225	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559056092	chr21:17085227-17085228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149588016	chr21:17085264-17085265	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572552474	chr21:17085268-17085269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559733611	chr21:17085292-17085293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369699660	chr21:17085313-17085314	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368720742	chr21:17085342-17085343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554943753	chr21:17085343-17085344	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567665683	chr21:17085349-17085350	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575073538	chr21:17085367-17085368	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544055811	chr21:17085443-17085444	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563546091	chr21:17085445-17085446	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113736482	chr21:17085496-17085497	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565396296	chr21:17085501-17085502	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181699254	chr21:17085527-17085528	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528169092	chr21:17085540-17085541	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547284227	chr21:17085553-17085554	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572306540	chr21:17085571-17085572	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547924895	chr21:17085575-17085576	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115111097	chr21:17085578-17085579	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144785795	chr21:17085599-17085600	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114074102	chr21:17085606-17085607	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148260232	chr21:17085615-17085616	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186669299	chr21:17085634-17085635	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191194818	chr21:17085649-17085650	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62219116	chr21:17085651-17085652	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183357692	chr21:17085658-17085659	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140390317	chr21:17085672-17085673	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185319417	chr21:17085739-17085740	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150386278	chr21:17085745-17085746	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528762729	chr21:17085747-17085748	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs137886728	chr21:17085755-17085756	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546016815	chr21:17085781-17085782	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559518841	chr21:17085807-17085808	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558213716	chr21:17085818-17085819	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572860025	chr21:17085836-17085837	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575035731	chr21:17085861-17085862	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149465834	chr21:17085918-17085919	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17080000-17085400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr21:17084800-17085600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17085400-17085800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:17085400-17086200	Enhancers	Osteobl	bone
5	chr21:17085400-17086400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:17085600-17086000	Enhancers	HSMM	muscle
7	chr21:17085600-17086200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:17085600-17086200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:17085600-17086400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:17085600-17086400	Enhancers	A549	lung

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