Variant report

Variant	esv3332395
Chromosome Location	chr22:22266752-22270150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22108841..22110548-chr22:22265297..22267699,2	K562	blood:
2	chr22:22255129..22259166-chr22:22267129..22272472,7	K562	blood:
3	chr22:22071322..22073400-chr22:22269185..22271638,3	K562	blood:
4	chr22:22221035..22223195-chr22:22267971..22269514,2	K562	blood:

Variant related genes	Relation type
ENSG00000100030	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568736059	chr22:22266795-22266796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs240055	chr22:22266808-22266809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs150605092	chr22:22266818-22266819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369314484	chr22:22266847-22266848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139701546	chr22:22266883-22266884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549714117	chr22:22266900-22266901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373085105	chr22:22266928-22266929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs8139622	chr22:22266938-22266939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374873051	chr22:22266944-22266945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201977186	chr22:22266945-22266946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529114540	chr22:22266973-22266974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143081735	chr22:22266988-22266989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs240056	chr22:22266995-22266996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539859625	chr22:22267010-22267011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370805394	chr22:22267011-22267012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534050356	chr22:22267019-22267020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547855630	chr22:22267110-22267111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140016634	chr22:22267114-22267115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540028247	chr22:22267127-22267128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374422806	chr22:22267138-22267139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185629133	chr22:22267145-22267146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536125397	chr22:22267150-22267151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113366054	chr22:22267184-22267185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553719997	chr22:22267192-22267193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540794852	chr22:22267202-22267203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190738350	chr22:22267247-22267248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560402697	chr22:22267274-22267275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113109654	chr22:22267280-22267281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114986945	chr22:22267303-22267304	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs543226050	chr22:22267320-22267321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144256743	chr22:22267323-22267324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145351580	chr22:22267334-22267335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71197628	chr22:22267340-22267341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs131669	chr22:22267342-22267343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5756043	chr22:22267359-22267360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71318737	chr22:22267360-22267361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376696648	chr22:22267361-22267362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150323422	chr22:22267365-22267366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143834970	chr22:22267366-22267367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71197629	chr22:22267380-22267381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201153821	chr22:22267385-22267386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs131670	chr22:22267392-22267393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563099300	chr22:22267417-22267418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374449616	chr22:22267440-22267441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147803405	chr22:22267461-22267462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529173024	chr22:22267463-22267464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542873121	chr22:22267500-22267501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182045701	chr22:22267504-22267505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8135507	chr22:22267534-22267535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs113601947	chr22:22267542-22267543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:212)

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	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
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	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
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
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
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22255800-22271000	Weak transcription	Fetal Muscle Leg	muscle
2	chr22:22256000-22267000	Weak transcription	Brain Anterior Caudate	brain
3	chr22:22256200-22271200	Weak transcription	Fetal Stomach	stomach
4	chr22:22256200-22271600	Weak transcription	Brain Germinal Matrix	brain
5	chr22:22256600-22273600	Weak transcription	Lung	lung
6	chr22:22256800-22271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:22257000-22277600	Weak transcription	Aorta	Aorta
8	chr22:22257200-22273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:22257600-22270000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:22257600-22271200	Weak transcription	Adipose Nuclei	Adipose
11	chr22:22257600-22273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr22:22258600-22271600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:22258800-22274400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:22259000-22271600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:22259200-22269600	Weak transcription	Right Atrium	heart
16	chr22:22259200-22270600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:22259200-22271600	Weak transcription	Right Ventricle	heart
18	chr22:22259200-22271600	Weak transcription	Spleen	Spleen
19	chr22:22262800-22270400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:22264600-22271600	Weak transcription	HSMM	muscle
21	chr22:22266800-22267000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr22:22267000-22273400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:22268000-22271000	Weak transcription	Placenta	Placenta
24	chr22:22268800-22273600	Weak transcription	Primary T cells from cord blood	blood
25	chr22:22269200-22271600	Weak transcription	Gastric	stomach
26	chr22:22269200-22274800	Weak transcription	Fetal Intestine Small	intestine
27	chr22:22269600-22269800	Enhancers	Fetal Brain Male	brain
28	chr22:22269600-22271600	Strong transcription	Right Atrium	heart
29	chr22:22270000-22270200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:22270000-22271400	Weak transcription	Brain Anterior Caudate	brain
31	chr22:22270000-22272600	Enhancers	Fetal Muscle Trunk	muscle
32	chr22:22270000-22275800	Weak transcription	Fetal Brain Male	brain

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