Variant report

Variant	esv3330850
Chromosome Location	chr22:20324452-20327950
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	chr22:20325334-20325556	GM12878	blood:	n/a	n/a
2	BATF	chr22:20326170-20326467	GM12878	blood:	n/a	n/a
3	BATF	chr22:20326192-20326467	GM12878	blood:	n/a	n/a
4	BCL11A	chr22:20325300-20325448	GM12878	blood:	n/a	n/a
5	BCL11A	chr22:20326174-20326459	GM12878	blood:	n/a	n/a
6	BCL11A	chr22:20326163-20326485	GM12878	blood:	n/a	n/a
7	BHLHE40	chr22:20326109-20326473	HepG2	liver:	n/a	n/a
8	BHLHE40	chr22:20325700-20326055	HepG2	liver:	n/a	n/a
9	BHLHE40	chr22:20327562-20327761	HepG2	liver:	n/a	n/a
10	BHLHE40	chr22:20325281-20325466	HepG2	liver:	n/a	n/a
11	CTCF	chr22:20325874-20325963	GM20000	blood:	n/a	n/a
12	CTCF	chr22:20326040-20326190	HCT-116	colon:	n/a	n/a
13	CTCF	chr22:20326040-20326190	HVMF	connective:	n/a	n/a
14	CTCF	chr22:20325960-20326110	AG10803	skin:	n/a	n/a
15	CTCF	chr22:20325980-20326130	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr22:20326040-20326190	AG10803	skin:	n/a	n/a
17	CTCF	chr22:20326207-20326451	K562	blood:	n/a	n/a
18	CTCF	chr22:20326168-20326385	K562	blood:	n/a	n/a
19	EBF1	chr22:20326961-20327202	GM12878	blood:	n/a	chr22:20327033-20327042 chr22:20327031-20327041 chr22:20327030-20327043
20	EBF1	chr22:20325783-20325968	GM12878	blood:	n/a	n/a
21	EBF1	chr22:20326164-20326468	GM12878	blood:	n/a	n/a
22	EBF1	chr22:20326129-20326509	GM12878	blood:	n/a	n/a
23	EP300	chr22:20325724-20326059	GM12878	blood:	n/a	n/a
24	EP300	chr22:20326186-20326454	GM12878	blood:	n/a	n/a
25	EP300	chr22:20327880-20328665	GM12878	blood:	n/a	chr22:20328344-20328358 chr22:20328025-20328039
26	EP300	chr22:20325344-20325510	GM12878	blood:	n/a	n/a
27	EP300	chr22:20327569-20327837	GM12878	blood:	n/a	n/a
28	EP300	chr22:20326155-20326512	GM12878	blood:	n/a	n/a
29	EP300	chr22:20327611-20327748	GM12878	blood:	n/a	n/a
30	FOSL2	chr22:20325676-20326072	HepG2	liver:	n/a	n/a
31	FOSL2	chr22:20327559-20327854	HepG2	liver:	n/a	n/a
32	FOSL2	chr22:20325761-20326060	HepG2	liver:	n/a	n/a
33	FOSL2	chr22:20326129-20326519	HepG2	liver:	n/a	n/a
34	FOSL2	chr22:20326159-20326485	HepG2	liver:	n/a	n/a
35	FOXA1	chr22:20327017-20327374	HepG2	liver:	n/a	n/a
36	FOXA1	chr22:20327450-20327946	HepG2	liver:	n/a	n/a
37	FOXA1	chr22:20325597-20326070	HepG2	liver:	n/a	n/a
38	FOXA1	chr22:20326089-20326498	HepG2	liver:	n/a	n/a
39	FOXA2	chr22:20326190-20326998	A549	lung:	n/a	n/a
40	FOXP2	chr22:20326166-20326482	PFSK-1	brain:	n/a	n/a
41	GABPA	chr22:20325857-20325966	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr22:20326191-20326438	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr22:20326189-20326522	Hela-S3	cervix:	n/a	n/a
44	GATA2	chr22:20327555-20329279	K562	blood:	n/a	chr22:20327558-20327579 chr22:20328818-20328834 chr22:20328823-20328830 chr22:20328823-20328830 chr22:20327811-20327820 chr22:20328823-20328830
45	GATA2	chr22:20326843-20327274	K562	blood:	n/a	n/a
46	GATA2	chr22:20326150-20326491	K562	blood:	n/a	n/a
47	HEY1	chr22:20327562-20327952	K562	blood:	n/a	n/a
48	HEY1	chr22:20326149-20326484	K562	blood:	n/a	n/a
49	HEY1	chr22:20326337-20326445	HepG2	liver:	n/a	n/a
50	HEY1	chr22:20326151-20326391	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007663.1-2	chr22:20325666-20325693	ENSG00000188424.4

Variant related genes	Relation type
ENSG00000188424	TF binding region

Extended variants
information (count: 206 )
Associated
traits (count: 231 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552948377	chr22:20324453-20324454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192019377	chr22:20324454-20324455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200885858	chr22:20324455-20324456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183112476	chr22:20324461-20324462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188181870	chr22:20324462-20324463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531731800	chr22:20324468-20324469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542196665	chr22:20324471-20324472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371422642	chr22:20324474-20324475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377747767	chr22:20324477-20324478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371164867	chr22:20324479-20324480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111220824	chr22:20324488-20324489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569472228	chr22:20324489-20324490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376131752	chr22:20324493-20324494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374382422	chr22:20324494-20324495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377245712	chr22:20324498-20324499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368428895	chr22:20324520-20324521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531937882	chr22:20324534-20324535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548350908	chr22:20324536-20324537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547988520	chr22:20324544-20324545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192776151	chr22:20324546-20324547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376032434	chr22:20324548-20324549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533910463	chr22:20324579-20324580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554112783	chr22:20324585-20324586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570545293	chr22:20324591-20324592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546690191	chr22:20324611-20324612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538536583	chr22:20324616-20324617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558468316	chr22:20324623-20324624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575048025	chr22:20324628-20324629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370396400	chr22:20324680-20324681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374108049	chr22:20324681-20324682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184455763	chr22:20324714-20324715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199977458	chr22:20324726-20324727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56651470	chr22:20324732-20324733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56651255	chr22:20324733-20324734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574452416	chr22:20324744-20324745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56651301	chr22:20324748-20324749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143971653	chr22:20324891-20324892	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111220783	chr22:20324895-20324896	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143502836	chr22:20324917-20324918	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373786228	chr22:20324939-20324940	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372011139	chr22:20324963-20324964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs184574058	chr22:20324968-20324969	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374204558	chr22:20324978-20324979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376359387	chr22:20324980-20324981	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs371048020	chr22:20324986-20324987	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs7511281	chr22:20324992-20324993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs546474605	chr22:20325020-20325021	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs563183102	chr22:20325023-20325024	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs181454583	chr22:20325040-20325041	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111220796	chr22:20325043-20325044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:231)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20309200-20327000	Weak transcription	Right Atrium	heart
2	chr22:20325600-20325800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:20325600-20326000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr22:20325800-20326000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr22:20325800-20326400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:20325800-20326400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:20325800-20326400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr22:20326000-20326200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:20326200-20326400	Enhancers	HUES64 Cell Line	embryonic stem cell

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