Variant report

Variant	esv3353921
Chromosome Location	chr22:22267502-22269800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000100030	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182045701	chr22:22267504-22267505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8135507	chr22:22267534-22267535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs113601947	chr22:22267542-22267543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145589781	chr22:22267600-22267601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6000067	chr22:22267610-22267611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs142700593	chr22:22267622-22267623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550418100	chr22:22267635-22267636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560446875	chr22:22267663-22267664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570227179	chr22:22267777-22267778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185461818	chr22:22267778-22267779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189067453	chr22:22267801-22267802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565583666	chr22:22267807-22267808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181295099	chr22:22267841-22267842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371725807	chr22:22267863-22267864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573672188	chr22:22267864-22267865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9610597	chr22:22267905-22267906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140202466	chr22:22267928-22267929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556753819	chr22:22267944-22267945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185547396	chr22:22267969-22267970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140729913	chr22:22268011-22268012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542585203	chr22:22268122-22268123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559588731	chr22:22268160-22268161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201773413	chr22:22268169-22268170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143194880	chr22:22268173-22268174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375330934	chr22:22268209-22268210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564444973	chr22:22268223-22268224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548338169	chr22:22268234-22268235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200680001	chr22:22268243-22268244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6000070	chr22:22268244-22268245	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs550279673	chr22:22268255-22268256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113758534	chr22:22268257-22268258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550637791	chr22:22268272-22268273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6000072	chr22:22268287-22268288	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs549453440	chr22:22268342-22268343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566373620	chr22:22268384-22268385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145790774	chr22:22268424-22268425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376662095	chr22:22268469-22268470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5756051	chr22:22268520-22268521	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570876116	chr22:22268524-22268525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536784583	chr22:22268594-22268595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539402784	chr22:22268597-22268598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556617661	chr22:22268604-22268605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573547530	chr22:22268611-22268612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576310312	chr22:22268650-22268651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189914837	chr22:22268692-22268693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552843899	chr22:22268724-22268725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs5756052	chr22:22268759-22268760	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs5995189	chr22:22268772-22268773	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs564503441	chr22:22268798-22268799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113029244	chr22:22268809-22268810	Weak transcription	Chromatin interactive region	1 gene(s)	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:26 , 50 per page) page: 1

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

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