Variant report

Variant	esv3329274
Chromosome Location	chr22:22236977-22239525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22234956..22237919-chr22:22251315..22254879,3	K562	blood:
2	chr22:22234535..22237813-chr22:22243928..22246954,3	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576865061	chr22:22237031-22237032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563019790	chr22:22237038-22237039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546020406	chr22:22237041-22237042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370838641	chr22:22237079-22237080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74785108	chr22:22237083-22237084	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374225986	chr22:22237091-22237092	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181876673	chr22:22237111-22237112	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186087078	chr22:22237160-22237161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1967938	chr22:22237202-22237203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190551187	chr22:22237208-22237209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530151267	chr22:22237209-22237210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62237475	chr22:22237231-22237232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113686259	chr22:22237232-22237233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80218335	chr22:22237233-22237234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75073411	chr22:22237234-22237235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546654906	chr22:22237245-22237246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560681938	chr22:22237247-22237248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199937407	chr22:22237248-22237249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187157595	chr22:22237296-22237297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532488894	chr22:22237315-22237316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552598449	chr22:22237357-22237358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569108472	chr22:22237363-22237364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550512673	chr22:22237417-22237418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182778306	chr22:22237428-22237429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550755064	chr22:22237436-22237437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538019087	chr22:22237438-22237439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567508279	chr22:22237475-22237476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8137028	chr22:22237512-22237513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs568395504	chr22:22237537-22237538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533832157	chr22:22237664-22237665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572065300	chr22:22237681-22237682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188283965	chr22:22237770-22237771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370764916	chr22:22237831-22237832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553481795	chr22:22237920-22237921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576733799	chr22:22237933-22237934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539163449	chr22:22237995-22237996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35590112	chr22:22238107-22238108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs576319768	chr22:22238113-22238114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538273416	chr22:22238121-22238122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542029865	chr22:22238170-22238171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558225934	chr22:22238174-22238175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561990712	chr22:22238226-22238227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572246380	chr22:22238231-22238232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9680731	chr22:22238252-22238253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7287060	chr22:22238305-22238306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560293091	chr22:22238309-22238310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371315493	chr22:22238339-22238340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71318731	chr22:22238344-22238345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7287767	chr22:22238367-22238368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562607185	chr22:22238392-22238393	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22235800-22258400	Weak transcription	Right Atrium	heart
2	chr22:22236400-22237200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:22236400-22237200	Enhancers	HepG2	liver
4	chr22:22236600-22237000	Enhancers	K562	blood
5	chr22:22237000-22237200	Flanking Active TSS	K562	blood
6	chr22:22237200-22237400	Enhancers	K562	blood

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