Variant report

Variant	esv3364641
Chromosome Location	chr22:20319952-20322850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr22:20321425-20321604	GM12878	blood:	n/a	n/a
2	EP300	chr22:20320762-20321670	GM12878	blood:	n/a	n/a
3	EP300	chr22:20321385-20321542	GM12878	blood:	n/a	n/a
4	FOSL2	chr22:20320684-20321029	HepG2	liver:	n/a	n/a
5	FOSL2	chr22:20320775-20321211	HepG2	liver:	n/a	n/a
6	GABPA	chr22:20321825-20322072	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr22:20321305-20321561	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr22:20322841-20323200	K562	blood:	n/a	n/a
9	GATA2	chr22:20321376-20322072	K562	blood:	n/a	n/a
10	GATA2	chr22:20320980-20321373	K562	blood:	n/a	n/a
11	GATA2	chr22:20322341-20322759	K562	blood:	n/a	n/a
12	GATA2	chr22:20318553-20320275	K562	blood:	n/a	n/a
13	HEY1	chr22:20320860-20321663	K562	blood:	n/a	n/a
14	HEY1	chr22:20321758-20322060	K562	blood:	n/a	n/a
15	IRF4	chr22:20321369-20321697	GM12878	blood:	n/a	n/a
16	JUND	chr22:20321111-20321237	HepG2	liver:	n/a	n/a
17	JUND	chr22:20321389-20321531	HepG2	liver:	n/a	n/a
18	PAX5	chr22:20321773-20322057	GM12878	blood:	n/a	n/a
19	PAX5	chr22:20321361-20321540	GM12878	blood:	n/a	n/a
20	POU2F2	chr22:20321321-20321669	GM12878	blood:	n/a	n/a
21	POU2F2	chr22:20321689-20322356	GM12878	blood:	n/a	chr22:20321711-20321733
22	POU2F2	chr22:20320656-20321024	GM12878	blood:	n/a	n/a
23	RXRA	chr22:20321155-20321704	HepG2	liver:	n/a	n/a
24	SIX5	chr22:20319889-20320193	K562	blood:	n/a	n/a
25	SIX5	chr22:20320855-20321206	GM12878	blood:	n/a	n/a
26	SIX5	chr22:20320634-20321596	K562	blood:	n/a	n/a
27	SIX5	chr22:20320958-20321611	K562	blood:	n/a	n/a
28	SIX5	chr22:20321726-20321994	GM12878	blood:	n/a	n/a
29	SIX5	chr22:20321702-20322281	K562	blood:	n/a	n/a
30	SIX5	chr22:20321773-20322175	K562	blood:	n/a	n/a
31	SP1	chr22:20321762-20322024	GM12878	blood:	n/a	n/a
32	SP1	chr22:20321709-20321977	HepG2	liver:	n/a	n/a
33	SPI1	chr22:20321792-20322007	K562	blood:	n/a	n/a
34	SPI1	chr22:20320944-20321248	K562	blood:	n/a	n/a
35	SPI1	chr22:20322474-20322723	K562	blood:	n/a	n/a
36	SPI1	chr22:20321344-20321652	K562	blood:	n/a	n/a
37	TCF12	chr22:20321829-20322000	GM12878	blood:	n/a	n/a
38	TCF12	chr22:20321020-20321214	HepG2	liver:	n/a	n/a
39	TCF3	chr22:20321009-20321303	GM12878	blood:	n/a	n/a
40	USF1	chr22:20321391-20321559	HepG2	liver:	n/a	n/a
41	ZBTB33	chr22:20319323-20320245	K562	blood:	n/a	n/a
42	ZBTB33	chr22:20320659-20322116	K562	blood:	n/a	n/a
43	ZBTB33	chr22:20321402-20321605	HepG2	liver:	n/a	n/a
44	ZBTB33	chr22:20321397-20321679	HepG2	liver:	n/a	n/a
45	ZBTB33	chr22:20321707-20322343	K562	blood:	n/a	n/a
46	ZBTB33	chr22:20322335-20322695	K562	blood:	n/a	n/a
47	ZBTB33	chr22:20321798-20322106	GM12878	blood:	n/a	n/a
48	ZBTB33	chr22:20321310-20321571	GM12878	blood:	n/a	n/a
49	ZBTB33	chr22:20321800-20322067	GM12878	blood:	n/a	n/a
50	ZBTB33	chr22:20320802-20321181	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000188424	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 231 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540084005	chr22:20319989-20319990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558372232	chr22:20320013-20320014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201607596	chr22:20320042-20320043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372391078	chr22:20320044-20320045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62217970	chr22:20320050-20320051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62217971	chr22:20320124-20320125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569893094	chr22:20320198-20320199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535526912	chr22:20320206-20320207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375452397	chr22:20320229-20320230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369739096	chr22:20320230-20320231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575126850	chr22:20320237-20320238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373190451	chr22:20320242-20320243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190089620	chr22:20320284-20320285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182372686	chr22:20320291-20320292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577941092	chr22:20320300-20320301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150222605	chr22:20320311-20320312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200824463	chr22:20320320-20320321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372841398	chr22:20320342-20320343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543737058	chr22:20320355-20320356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371835961	chr22:20320371-20320372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370302713	chr22:20320374-20320375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557119513	chr22:20320379-20320380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573935234	chr22:20320380-20320381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12163009	chr22:20320406-20320407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377738474	chr22:20320438-20320439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371198851	chr22:20320439-20320440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374322684	chr22:20320480-20320481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368346669	chr22:20320541-20320542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9606326	chr22:20320626-20320627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547025959	chr22:20320637-20320638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373995976	chr22:20320655-20320656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367901072	chr22:20320677-20320678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528443008	chr22:20320690-20320691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371372589	chr22:20320714-20320715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138497664	chr22:20320731-20320732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564343874	chr22:20320748-20320749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9605099	chr22:20320763-20320764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9605100	chr22:20320829-20320830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202219303	chr22:20320932-20320933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367872441	chr22:20320938-20320939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199641790	chr22:20320958-20320959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199949456	chr22:20320967-20320968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552936439	chr22:20320969-20320970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62217972	chr22:20320976-20320977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376539505	chr22:20320985-20320986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371708120	chr22:20320992-20320993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200930121	chr22:20321016-20321017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62217973	chr22:20321018-20321019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202134264	chr22:20321034-20321035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529081824	chr22:20321035-20321036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:231)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal cancer	21851588	CNVD
22q11.2 deletion syndrome	22563040	CNVD
cardiac septal defect	19239688	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Urothelial carcinoma	21177765	CNVD
Developmental delay	21147756	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20309200-20327000	Weak transcription	Right Atrium	heart

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