Variant report

Variant	esv3348052
Chromosome Location	chr22:20707952-20714950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 833 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574871611	chr22:20707958-20707959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573635662	chr22:20707966-20707967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75845046	chr22:20707970-20707971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542694059	chr22:20707997-20707998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4052341	chr22:20708001-20708002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560791026	chr22:20708002-20708003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551662162	chr22:20708016-20708017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4052342	chr22:20708042-20708043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565442035	chr22:20708068-20708069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4052343	chr22:20708081-20708082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3966527	chr22:20708092-20708093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531020451	chr22:20708111-20708112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550612353	chr22:20708115-20708116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62218167	chr22:20708132-20708133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567465601	chr22:20708155-20708156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377448002	chr22:20708174-20708175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546621304	chr22:20708214-20708215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565812252	chr22:20708227-20708228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9625918	chr22:20708247-20708248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534887227	chr22:20708270-20708271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192220465	chr22:20708271-20708272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202169398	chr22:20708290-20708291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577728114	chr22:20708311-20708312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62218168	chr22:20708318-20708319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373050190	chr22:20708328-20708329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537248430	chr22:20708330-20708331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140529213	chr22:20708337-20708338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373583198	chr22:20708352-20708353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562891046	chr22:20708358-20708359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573822625	chr22:20708366-20708367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542630838	chr22:20708401-20708402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200858477	chr22:20708410-20708411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149693125	chr22:20708417-20708418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183737940	chr22:20708425-20708426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187723192	chr22:20708436-20708437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200990836	chr22:20708440-20708441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201530308	chr22:20708447-20708448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114465591	chr22:20708507-20708508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531004633	chr22:20708526-20708527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550802172	chr22:20708536-20708537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376602026	chr22:20708596-20708597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543642344	chr22:20708617-20708618	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9754433	chr22:20708641-20708642	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530160109	chr22:20708652-20708653	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5753493	chr22:20708685-20708686	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566822381	chr22:20708697-20708698	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532413109	chr22:20708704-20708705	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551608520	chr22:20708712-20708713	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145495217	chr22:20708726-20708727	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564847099	chr22:20708728-20708729	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:230)

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
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
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
Glioblastoma multiforme	22286061	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
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
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Ependymoma	20639864	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	17989066	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20707600-20721200	Weak transcription	Right Atrium	heart
2	chr22:20708600-20708800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:20708600-20709200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:20708800-20709000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:20709000-20716200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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