Variant report

Variant	nsv965953
Chromosome Location	chr21:28822404-28825868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:28823518-28823534	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:28823326-28823514	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:28825118-28825122	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000231236	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117533809	chr21:28822413-28822414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552599371	chr21:28822474-28822475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs239623	chr21:28822503-28822504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185606599	chr21:28822508-28822509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35845815	chr21:28822510-28822511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565060732	chr21:28822518-28822519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375442825	chr21:28822524-28822525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113575524	chr21:28822525-28822526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563620774	chr21:28822542-28822543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35134048	chr21:28822579-28822580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529434895	chr21:28822644-28822645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539119149	chr21:28822646-28822647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145088931	chr21:28822766-28822767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112551832	chr21:28822797-28822798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114942743	chr21:28822835-28822836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575730185	chr21:28822844-28822845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1376924	chr21:28822881-28822882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140130475	chr21:28822884-28822885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571766507	chr21:28822939-28822940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537257995	chr21:28822945-28822946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113289948	chr21:28822966-28822967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563788601	chr21:28822980-28822981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567248509	chr21:28822998-28822999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181640670	chr21:28823003-28823004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143118902	chr21:28823034-28823035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547560492	chr21:28823097-28823098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538496032	chr21:28823140-28823141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148281496	chr21:28823217-28823218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575535970	chr21:28823267-28823268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573408298	chr21:28823277-28823278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117577938	chr21:28823321-28823322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561164259	chr21:28823325-28823326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372565869	chr21:28823357-28823358	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs187146302	chr21:28823398-28823399	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543161051	chr21:28823449-28823450	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559756064	chr21:28823493-28823494	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs12329804	chr21:28823505-28823506	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188674574	chr21:28823526-28823527	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545642754	chr21:28823534-28823535	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs181296680	chr21:28823556-28823557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs239622	chr21:28823570-28823571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550875320	chr21:28823588-28823589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73177999	chr21:28823590-28823591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529712014	chr21:28823597-28823598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114717079	chr21:28823598-28823599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563018779	chr21:28823729-28823730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114751138	chr21:28823767-28823768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566088416	chr21:28823802-28823803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538234854	chr21:28823810-28823811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112855858	chr21:28823813-28823814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28820800-28823800	Weak transcription	Psoas Muscle	Psoas
2	chr21:28821000-28825000	Weak transcription	Pancreas	Pancrea
3	chr21:28821800-28824600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr21:28822000-28822800	Weak transcription	HUVEC	blood vessel
5	chr21:28822400-28824400	Enhancers	Adipose Nuclei	Adipose
6	chr21:28822600-28823200	Enhancers	Small Intestine	intestine
7	chr21:28822800-28823000	Enhancers	Left Ventricle	heart
8	chr21:28822800-28823000	Enhancers	HUVEC	blood vessel
9	chr21:28822800-28823200	Enhancers	Fetal Intestine Large	intestine
10	chr21:28822800-28823400	Enhancers	Spleen	Spleen
11	chr21:28823000-28823400	Enhancers	Dnd41	blood
12	chr21:28823000-28823800	Enhancers	Fetal Intestine Small	intestine
13	chr21:28823000-28823800	Weak transcription	Left Ventricle	heart
14	chr21:28823400-28824600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:28823800-28824000	Enhancers	Psoas Muscle	Psoas
16	chr21:28823800-28824400	Enhancers	Left Ventricle	heart
17	chr21:28824400-28824800	Weak transcription	Left Ventricle	heart
18	chr21:28824600-28825000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr21:28825000-28825200	Enhancers	Left Ventricle	heart
20	chr21:28825000-28825200	Enhancers	Lung	lung
21	chr21:28825000-28825200	Enhancers	Pancreas	Pancrea
22	chr21:28825000-28825600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr21:28825200-28825600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links