Variant report

Variant	esv3511167
Chromosome Location	chr22:20344852-20362650
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	chr22:20355305-20355563	GM12878	blood:	n/a	n/a
2	BATF	chr22:20348946-20349197	GM12878	blood:	n/a	n/a
3	BATF	chr22:20346212-20346419	GM12878	blood:	n/a	n/a
4	BATF	chr22:20359857-20360194	GM12878	blood:	n/a	n/a
5	BATF	chr22:20344908-20345140	GM12878	blood:	n/a	n/a
6	BATF	chr22:20346185-20346381	GM12878	blood:	n/a	n/a
7	BCL11A	chr22:20359571-20360081	GM12878	blood:	n/a	n/a
8	BCL11A	chr22:20351272-20351516	GM12878	blood:	n/a	n/a
9	BCL11A	chr22:20345187-20345362	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:20350132-20350302	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:20344966-20345376	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:20349704-20349929	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:20346170-20346459	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:20359843-20360086	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:20350736-20350907	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:20360094-20360447	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:20361230-20361825	GM12878	blood:	n/a	n/a
18	BHLHE40	chr22:20345360-20345616	HepG2	liver:	n/a	n/a
19	BHLHE40	chr22:20345635-20345881	HepG2	liver:	n/a	n/a
20	BHLHE40	chr22:20347360-20347587	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:20362183-20362654	HepG2	liver:	n/a	n/a
22	BHLHE40	chr22:20345930-20346847	HepG2	liver:	n/a	n/a
23	BHLHE40	chr22:20348087-20348416	HepG2	liver:	n/a	n/a
24	BHLHE40	chr22:20347089-20347330	HepG2	liver:	n/a	n/a
25	BHLHE40	chr22:20344867-20345228	HepG2	liver:	n/a	n/a
26	CTCF	chr22:20350522-20351086	K562	blood:	n/a	n/a
27	CTCF	chr22:20350880-20350991	HepG2	liver:	n/a	n/a
28	CTCF	chr22:20350820-20350970	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr22:20350820-20350970	HepG2	liver:	n/a	n/a
30	CTCF	chr22:20350880-20351030	GM12873	blood:	n/a	n/a
31	CTCF	chr22:20362384-20362485	HepG2	liver:	n/a	n/a
32	CTCF	chr22:20350420-20350949	K562	blood:	n/a	n/a
33	CTCF	chr22:20361562-20361599	LNCaP	prostate:	n/a	n/a
34	CTCF	chr22:20359929-20360002	GM13977	blood:	n/a	chr22:20359981-20359997 chr22:20359983-20359996
35	CTCF	chr22:20350840-20350990	GM12866	blood:	n/a	n/a
36	CTCF	chr22:20359808-20360194	K562	blood:	n/a	chr22:20359981-20359997 chr22:20360086-20360094 chr22:20359855-20359868 chr22:20359983-20359996
37	CTCF	chr22:20359862-20360235	K562	blood:	n/a	chr22:20359981-20359997 chr22:20360086-20360094 chr22:20359983-20359996
38	CTCF	chr22:20353009-20353043	LNCaP	prostate:	n/a	n/a
39	CTCF	chr22:20350535-20350858	K562	blood:	n/a	n/a
40	CTCF	chr22:20350840-20350990	BE2_C	brain:	n/a	n/a
41	CTCF	chr22:20359875-20360133	K562	blood:	n/a	chr22:20359981-20359997 chr22:20360086-20360094 chr22:20359983-20359996
42	CTCF	chr22:20350800-20350950	GM12872	blood:	n/a	n/a
43	CTCF	chr22:20350860-20351010	AG04449	skin:	n/a	n/a
44	CTCF	chr22:20350820-20350970	GM12871	blood:	n/a	n/a
45	CTCF	chr22:20350860-20351010	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr22:20350860-20351010	BE2_C	brain:	n/a	n/a
47	EBF1	chr22:20349511-20349722	GM12878	blood:	n/a	n/a
48	EBF1	chr22:20362133-20362293	GM12878	blood:	n/a	n/a
49	EBF1	chr22:20348951-20349222	GM12878	blood:	n/a	n/a
50	EBF1	chr22:20359791-20360556	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230410	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 233 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201924661	chr22:20345307-20345308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs9605109	chr22:20345308-20345309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373363072	chr22:20345321-20345322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201786753	chr22:20345329-20345330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200339791	chr22:20345361-20345362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200979876	chr22:20345376-20345377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201930957	chr22:20345476-20345477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200405342	chr22:20345521-20345522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs375260282	chr22:20345532-20345533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377420994	chr22:20345565-20345566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199675079	chr22:20345592-20345593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs375356237	chr22:20345597-20345598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs9605110	chr22:20345602-20345603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200776740	chr22:20345664-20345665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556949631	chr22:20345802-20345803	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs573860688	chr22:20345859-20345860	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542550911	chr22:20345876-20345877	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs552737145	chr22:20345933-20345934	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201633674	chr22:20345953-20345954	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs738069	chr22:20345978-20345979	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs368147525	chr22:20346100-20346101	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572744836	chr22:20346229-20346230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367888613	chr22:20346278-20346279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62218631	chr22:20360628-20360629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3962691	chr22:20360856-20360857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143901841	chr22:20360881-20360882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189812639	chr22:20360886-20360887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556586210	chr22:20360928-20360929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376954454	chr22:20360957-20360958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11486545	chr22:20360962-20360963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576544144	chr22:20360974-20360975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542077500	chr22:20361004-20361005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561971645	chr22:20361043-20361044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371233296	chr22:20361056-20361057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375531041	chr22:20361061-20361062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527762918	chr22:20361065-20361066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541167452	chr22:20361073-20361074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564137156	chr22:20361150-20361151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182023275	chr22:20361182-20361183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547747877	chr22:20361211-20361212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140729056	chr22:20361223-20361224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112091896	chr22:20361254-20361255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375581849	chr22:20361255-20361256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184623332	chr22:20361277-20361278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548391365	chr22:20361299-20361300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565365962	chr22:20361300-20361301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368103970	chr22:20361313-20361314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs517083	chr22:20361315-20361316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568304563	chr22:20361317-20361318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373452109	chr22:20361362-20361363	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:233)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20345800-20346400	Enhancers	HepG2	liver
2	chr22:20360600-20361800	Enhancers	Fetal Muscle Trunk	muscle

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