Variant report

Variant	nsv965980
Chromosome Location	chr21:28791997-28794137
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	CTCF	chr21:28793020-28793170	HBMEC	blood vessel:	n/a	n/a
2	HEY1	chr21:28792881-28793407	K562	blood:	n/a	n/a
3	POLR2A	chr21:28793939-28794378	U87	brain:	n/a	n/a
4	POLR2A	chr21:28793231-28793372	GM12878	blood:	n/a	n/a
5	POLR2A	chr21:28793194-28793402	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:28792845-28793043	MCF-7	breast:	n/a	n/a
7	POLR2A	chr21:28793108-28793435	GM12892	blood:	n/a	n/a
8	POLR2A	chr21:28792820-28793374	GM12878	blood:	n/a	n/a
9	POLR2A	chr21:28792963-28793119	GM12878	blood:	n/a	n/a
10	STAT3	chr21:28791889-28792017	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RPL10P1	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145061438	chr21:28792011-28792012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147552770	chr21:28792097-28792098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568419546	chr21:28792113-28792114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60998624	chr21:28792148-28792149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574587959	chr21:28792152-28792153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145216757	chr21:28792169-28792170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569893730	chr21:28792171-28792172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200964418	chr21:28792172-28792173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150524385	chr21:28792195-28792196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397827388	chr21:28792198-28792199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374722475	chr21:28792280-28792281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535966490	chr21:28792312-28792313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536080649	chr21:28792356-28792357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553838202	chr21:28792367-28792368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373832127	chr21:28792399-28792400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187300605	chr21:28792400-28792401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192403343	chr21:28792401-28792402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534275101	chr21:28792455-28792456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78230019	chr21:28792501-28792502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577751043	chr21:28792505-28792506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114745701	chr21:28792518-28792519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563599953	chr21:28792532-28792533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115238277	chr21:28792587-28792588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183350991	chr21:28792617-28792618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369483290	chr21:28792674-28792675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561995872	chr21:28792709-28792710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187506841	chr21:28792734-28792735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142086048	chr21:28792738-28792739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564137191	chr21:28792747-28792748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533183969	chr21:28792785-28792786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550045460	chr21:28792811-28792812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570028841	chr21:28792817-28792818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529437157	chr21:28792833-28792834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113952985	chr21:28792844-28792845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565595377	chr21:28792845-28792846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534704392	chr21:28792862-28792863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557928693	chr21:28792878-28792879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571237870	chr21:28792885-28792886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2840361	chr21:28792959-28792960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557267543	chr21:28792997-28792998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573884925	chr21:28793023-28793024	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564240986	chr21:28793034-28793035	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542419392	chr21:28793050-28793051	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372001463	chr21:28793081-28793082	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375620724	chr21:28793116-28793117	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541493046	chr21:28793179-28793180	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564275010	chr21:28793186-28793187	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375263284	chr21:28793203-28793204	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs533121677	chr21:28793236-28793237	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543434006	chr21:28793295-28793296	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28785600-28793000	Weak transcription	Pancreas	Pancrea
2	chr21:28786200-28795400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:28789200-28792000	Enhancers	Fetal Lung	lung
4	chr21:28789200-28798000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:28789400-28794600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28789400-28795400	Weak transcription	Gastric	stomach
7	chr21:28789400-28798000	Weak transcription	Spleen	Spleen
8	chr21:28789400-28802000	Weak transcription	Left Ventricle	heart
9	chr21:28790200-28792600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:28791200-28794800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:28791600-28794000	Weak transcription	Adipose Nuclei	Adipose
12	chr21:28791800-28793800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:28791800-28794000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:28791800-28794000	Weak transcription	NHLF	lung
15	chr21:28792000-28794000	Weak transcription	Fetal Lung	lung
16	chr21:28792600-28793000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:28792800-28793200	Enhancers	Lung	lung
18	chr21:28793000-28793200	ZNF genes & repeats	Pancreas	Pancrea
19	chr21:28793000-28793400	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr21:28793000-28798800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:28793200-28798000	Weak transcription	Pancreas	Pancrea
22	chr21:28793400-28795400	Weak transcription	Fetal Intestine Small	intestine
23	chr21:28793800-28796400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:28793800-28798600	Enhancers	Osteobl	bone
25	chr21:28793800-28798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:28793800-28799000	Enhancers	NHDF-Ad	bronchial
27	chr21:28794000-28794400	Enhancers	Fetal Lung	lung
28	chr21:28794000-28795000	Enhancers	Aorta	Aorta
29	chr21:28794000-28795600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr21:28794000-28798000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:28794000-28798200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:28794000-28798600	Enhancers	Adipose Nuclei	Adipose
33	chr21:28794000-28798600	Enhancers	NHLF	lung
34	chr21:28794000-28799200	Enhancers	Muscle Satellite Cultured Cells	--

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