Variant report

Variant	esv3427467
Chromosome Location	chr22:20330352-20333250
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	BATF	chr22:20330888-20331095	GM12878	blood:	n/a	n/a
2	BCL11A	chr22:20330392-20330599	GM12878	blood:	n/a	n/a
3	EGR1	chr22:20331696-20331815	K562	blood:	n/a	n/a
4	EP300	chr22:20329579-20331939	GM12878	blood:	n/a	n/a
5	FOSL2	chr22:20330744-20331534	HepG2	liver:	n/a	n/a
6	FOSL2	chr22:20329429-20330446	HepG2	liver:	n/a	n/a
7	FOSL2	chr22:20331546-20332122	HepG2	liver:	n/a	n/a
8	FOSL2	chr22:20330745-20332218	HepG2	liver:	n/a	n/a
9	FOXA1	chr22:20331728-20332431	HepG2	liver:	n/a	n/a
10	GABPA	chr22:20331732-20331841	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr22:20331616-20331721	Hela-S3	cervix:	n/a	n/a
12	GATA2	chr22:20331384-20332477	K562	blood:	n/a	n/a
13	GATA2	chr22:20330422-20331309	K562	blood:	n/a	chr22:20331076-20331086 chr22:20331079-20331086 chr22:20331078-20331088
14	GATA2	chr22:20332765-20334941	K562	blood:	n/a	n/a
15	HEY1	chr22:20330438-20331854	K562	blood:	n/a	n/a
16	HEY1	chr22:20331937-20332268	K562	blood:	n/a	n/a
17	IRF4	chr22:20330416-20330709	GM12878	blood:	n/a	n/a
18	IRF4	chr22:20331271-20331582	GM12878	blood:	n/a	n/a
19	IRF4	chr22:20330969-20331535	GM12878	blood:	n/a	n/a
20	IRF4	chr22:20331856-20332271	GM12878	blood:	n/a	n/a
21	JUND	chr22:20329754-20330425	HepG2	liver:	n/a	n/a
22	JUND	chr22:20331165-20331491	HepG2	liver:	n/a	n/a
23	JUND	chr22:20331629-20332002	HepG2	liver:	n/a	n/a
24	JUND	chr22:20330539-20330750	HepG2	liver:	n/a	n/a
25	PAX5	chr22:20330826-20330984	GM12878	blood:	n/a	n/a
26	PAX5	chr22:20330526-20330773	GM12878	blood:	n/a	n/a
27	PAX5	chr22:20331358-20331561	GM12878	blood:	n/a	n/a
28	PAX5	chr22:20331180-20331357	GM12878	blood:	n/a	n/a
29	PAX5	chr22:20330516-20331050	GM12878	blood:	n/a	n/a
30	PAX5	chr22:20329433-20331033	GM12878	blood:	n/a	n/a
31	PAX5	chr22:20331651-20331924	GM12878	blood:	n/a	n/a
32	PBX3	chr22:20333001-20333142	GM12878	blood:	n/a	n/a
33	PBX3	chr22:20330826-20330957	GM12878	blood:	n/a	n/a
34	POLR2A	chr22:20330583-20331685	K562	blood:	n/a	n/a
35	POU2F2	chr22:20328808-20332164	GM12878	blood:	n/a	chr22:20332115-20332130 chr22:20330251-20330273
36	POU2F2	chr22:20331982-20332172	GM12878	blood:	n/a	chr22:20332115-20332130
37	RXRA	chr22:20328737-20330400	HepG2	liver:	n/a	n/a
38	RXRA	chr22:20332092-20332400	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr22:20332011-20332131	HepG2	liver:	n/a	n/a
40	SIN3AK20	chr22:20331390-20331515	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr22:20331713-20331871	HepG2	liver:	n/a	n/a
42	SIX5	chr22:20333011-20333676	K562	blood:	n/a	n/a
43	SIX5	chr22:20332974-20333323	K562	blood:	n/a	n/a
44	SIX5	chr22:20331962-20332400	GM12878	blood:	n/a	n/a
45	SIX5	chr22:20327606-20332214	K562	blood:	n/a	chr22:20331236-20331250 chr22:20331240-20331249
46	SIX5	chr22:20331503-20332237	K562	blood:	n/a	n/a
47	SIX5	chr22:20328791-20331471	K562	blood:	n/a	chr22:20331236-20331250 chr22:20331240-20331249
48	SP1	chr22:20330825-20331066	GM12878	blood:	n/a	n/a
49	SP1	chr22:20331765-20332416	GM12878	blood:	n/a	n/a
50	SP1	chr22:20332951-20333364	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007663.1-2	chr22:20332017-20332103	ENSG00000188424.4
2	lnc-DGCR6L-1	chr22:20331756-20331888	XLOC_014300
3	lnc-DGCR6L-1	chr22:20330726-20331038	XLOC_014300

Variant related genes	Relation type
ENSG00000235578	TF binding region
AFTPH	miRNA target sites
AGFG1	miRNA target sites

Extended variants
information (count: 32 )
Associated
traits (count: 229 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547591564	chr22:20330605-20330606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4018813	chr22:20330735-20330736	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs9617876	chr22:20330744-20330745	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539528976	chr22:20330747-20330748	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556031423	chr22:20330764-20330765	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs373123776	chr22:20330787-20330788	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs569586825	chr22:20330797-20330798	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs4018816	chr22:20330809-20330810	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs535113414	chr22:20330823-20330824	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs200523566	chr22:20330873-20330874	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs111415440	chr22:20330874-20330875	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4018818	chr22:20330895-20330896	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555990922	chr22:20330899-20330900	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs373397068	chr22:20330909-20330910	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs572630620	chr22:20330913-20330914	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs10439904	chr22:20331006-20331007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs199869401	chr22:20331774-20331775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs577864632	chr22:20331798-20331799	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs200905764	chr22:20331799-20331800	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112087794	chr22:20331888-20331889	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs543467015	chr22:20332164-20332165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563644568	chr22:20332165-20332166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs470612	chr22:20332318-20332319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs559794	chr22:20332355-20332356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs529255526	chr22:20332453-20332454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs112101395	chr22:20332459-20332460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559722747	chr22:20332806-20332807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs202091382	chr22:20333081-20333082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200005360	chr22:20333095-20333096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200957059	chr22:20333114-20333115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201957477	chr22:20333136-20333137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372434193	chr22:20333229-20333230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:229)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20330600-20331000	Enhancers	Fetal Heart	heart

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