Variant report

Variant	esv3392302
Chromosome Location	chr22:20342252-20345050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:20343864-20344220	GM12878	blood:	n/a	n/a
2	BATF	chr22:20343122-20343360	GM12878	blood:	n/a	n/a
3	BATF	chr22:20344908-20345140	GM12878	blood:	n/a	n/a
4	BATF	chr22:20343121-20343327	GM12878	blood:	n/a	n/a
5	BATF	chr22:20342284-20342877	GM12878	blood:	n/a	n/a
6	BATF	chr22:20343423-20343848	GM12878	blood:	n/a	n/a
7	BATF	chr22:20343595-20343809	GM12878	blood:	n/a	n/a
8	BCL11A	chr22:20344966-20345376	GM12878	blood:	n/a	n/a
9	BCL11A	chr22:20343108-20344068	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:20342310-20342650	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:20342147-20342941	GM12878	blood:	n/a	n/a
12	BHLHE40	chr22:20344867-20345228	HepG2	liver:	n/a	n/a
13	EBF1	chr22:20343912-20344251	GM12878	blood:	n/a	n/a
14	EBF1	chr22:20342302-20342815	GM12878	blood:	n/a	n/a
15	EBF1	chr22:20343903-20344222	GM12878	blood:	n/a	n/a
16	EBF1	chr22:20342597-20342809	GM12878	blood:	n/a	n/a
17	EP300	chr22:20344484-20345758	GM12878	blood:	n/a	n/a
18	EP300	chr22:20343123-20344164	GM12878	blood:	n/a	n/a
19	EP300	chr22:20345022-20345188	GM12878	blood:	n/a	n/a
20	EP300	chr22:20342149-20342927	GM12878	blood:	n/a	n/a
21	EP300	chr22:20342327-20342512	GM12878	blood:	n/a	n/a
22	EP300	chr22:20342562-20342843	GM12878	blood:	n/a	n/a
23	FOSL2	chr22:20342250-20342881	HepG2	liver:	n/a	n/a
24	FOSL2	chr22:20343136-20344350	HepG2	liver:	n/a	n/a
25	FOSL2	chr22:20342383-20342877	HepG2	liver:	n/a	n/a
26	FOSL2	chr22:20344512-20345922	HepG2	liver:	n/a	chr22:20345432-20345440 chr22:20345433-20345440
27	FOSL2	chr22:20344672-20346733	HepG2	liver:	n/a	chr22:20345432-20345440 chr22:20345433-20345440
28	FOSL2	chr22:20343489-20344409	HepG2	liver:	n/a	n/a
29	FOXA1	chr22:20344789-20347503	HepG2	liver:	n/a	n/a
30	GABPA	chr22:20343896-20344239	Hela-S3	cervix:	n/a	n/a
31	GATA2	chr22:20343471-20344381	K562	blood:	n/a	chr22:20344360-20344367
32	GATA2	chr22:20345024-20345695	K562	blood:	n/a	n/a
33	HEY1	chr22:20344511-20344708	K562	blood:	n/a	n/a
34	HEY1	chr22:20344008-20344223	K562	blood:	n/a	n/a
35	HEY1	chr22:20343298-20343645	K562	blood:	n/a	n/a
36	HEY1	chr22:20342485-20342737	K562	blood:	n/a	n/a
37	IRF4	chr22:20342108-20342915	GM12878	blood:	n/a	n/a
38	IRF4	chr22:20343137-20344259	GM12878	blood:	n/a	n/a
39	IRF4	chr22:20343093-20344261	GM12878	blood:	n/a	n/a
40	IRF4	chr22:20342096-20342956	GM12878	blood:	n/a	n/a
41	JUND	chr22:20343844-20344259	HepG2	liver:	n/a	n/a
42	JUND	chr22:20342533-20342749	HepG2	liver:	n/a	n/a
43	JUND	chr22:20344756-20345923	HepG2	liver:	n/a	chr22:20345432-20345440 chr22:20345433-20345440
44	JUND	chr22:20344510-20344724	HepG2	liver:	n/a	n/a
45	JUND	chr22:20343121-20343823	HepG2	liver:	n/a	n/a
46	JUND	chr22:20344980-20345412	HepG2	liver:	n/a	n/a
47	JUND	chr22:20342270-20342856	HepG2	liver:	n/a	n/a
48	NFIC	chr22:20342142-20342785	GM12878	blood:	n/a	n/a
49	NFIC	chr22:20343096-20343984	GM12878	blood:	n/a	n/a
50	NFIC	chr22:20343112-20343565	GM12878	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20343300-20343350	HNPCEpiC	eye:	n/a
2	chr22:20343300-20343350	HNPCEpiC	eye:	n/a
3	chr22:20343300-20343350	HIPEpiC	eye:	n/a
4	chr22:20342562-20342612	IMR90	lung:	fetal
5	chr22:20343300-20343350	H1-hESC	embryonic stem cell:	embryo
6	chr22:20342520-20342570	K562	blood:	n/a
7	chr22:20342520-20342570	GM19239	blood:	n/a
8	chr22:20343300-20343350	HCPEpiC	choroid plexus:	n/a
9	chr22:20342520-20342570	SK-N-SH_RA	brain:	n/a
10	chr22:20342562-20342612	BJ	skin:	n/a
11	chr22:20342520-20342570	IMR90	lung:	fetal
12	chr22:20342520-20342570	GM12891	blood:	n/a
13	chr22:20342520-20342570	AoSMC	blood vessel:	n/a
14	chr22:20342520-20342570	AG04449	skin:	fetal
15	chr22:20342562-20342612	ECC-1	luminal epithelium:	n/a
16	chr22:20343300-20343350	AG09319	gingival:	n/a
17	chr22:20343300-20343350	HEK293	kidney:	embryo
18	chr22:20342562-20342612	RPTEC	kidney:	n/a
19	chr22:20343300-20343350	AoSMC	blood vessel:	n/a
20	chr22:20342562-20342612	U87	brain:	n/a
21	chr22:20342562-20342612	AG04449	skin:	fetal
22	chr22:20343300-20343350	NH-A	brain:	n/a
23	chr22:20343300-20343350	T-47D	breast:	n/a
24	chr22:20342520-20342570	HUVEC	blood vessel:	n/a
25	chr22:20343300-20343350	BJ	skin:	n/a
26	chr22:20342520-20342570	HCF	heart:	n/a
27	chr22:20342562-20342612	ovcar-3	ovarian:	n/a
28	chr22:20342520-20342570	AG09309	skin:	n/a
29	chr22:20342562-20342612	HCF	heart:	n/a
30	chr22:20342562-20342612	Hepatocyte	liver:	n/a
31	chr22:20342520-20342570	MCF10A-Er-Src	breast:	n/a
32	chr22:20342562-20342612	AG09309	skin:	n/a
33	chr22:20342562-20342612	HRPEpiC	eye:	n/a
34	chr22:20342520-20342570	AG04450	lung:	fetal
35	chr22:20343300-20343350	GM12878	blood:	n/a
36	chr22:20342562-20342612	HEK293	kidney:	embryo
37	chr22:20343300-20343350	SK-N-MC	brain:	n/a
38	chr22:20343300-20343350	HAEpiC	amniotic membrane:	n/a
39	chr22:20342562-20342612	NHDF-neo	bronchial:	n/a
40	chr22:20342520-20342570	RPTEC	kidney:	n/a
41	chr22:20342562-20342612	AoSMC	blood vessel:	n/a
42	chr22:20343300-20343350	NHBE	bronchial:	n/a
43	chr22:20343300-20343350	GM19239	blood:	n/a
44	chr22:20342562-20342612	Jurkat	blood:	n/a
45	chr22:20342562-20342612	NH-A	brain:	n/a
46	chr22:20342562-20342612	H1-hESC	embryonic stem cell:	embryo
47	chr22:20342562-20342612	Caco-2	colon:	n/a
48	chr22:20342562-20342612	HUVEC	blood vessel:	n/a
49	chr22:20343300-20343350	IMR90	lung:	fetal
50	chr22:20343300-20343350	CMK	blood:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007663.1-2	chr22:20342936-20342955	ENSG00000188424.4

No data

Variant related genes	Relation type
ENSG00000230410	TF binding region
ENSG00000230410	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573397024	chr22:20342256-20342257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs12168181	chr22:20342288-20342289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558984165	chr22:20342335-20342336	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs371394196	chr22:20342336-20342337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12167965	chr22:20342348-20342349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543306940	chr22:20342364-20342365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369954672	chr22:20342370-20342371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573722209	chr22:20342390-20342391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372209235	chr22:20342415-20342416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542436842	chr22:20342427-20342428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375271329	chr22:20342501-20342502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs369612153	chr22:20342542-20342543	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs559152241	chr22:20342547-20342548	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs528160070	chr22:20342548-20342549	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs373507807	chr22:20342574-20342575	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs564532947	chr22:20342678-20342679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs530529665	chr22:20342717-20342718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201130474	chr22:20343134-20343135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550951044	chr22:20343163-20343164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs567962760	chr22:20343182-20343183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201522637	chr22:20343199-20343200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs199634801	chr22:20343215-20343216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs547193543	chr22:20343257-20343258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs5746581	chr22:20343269-20343270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs145587949	chr22:20343349-20343350	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs201029850	chr22:20343449-20343450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567111293	chr22:20343491-20343492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539131650	chr22:20343518-20343519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs559097564	chr22:20343524-20343525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569117920	chr22:20343528-20343529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538256170	chr22:20343564-20343565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs9606357	chr22:20343728-20343729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:230)

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

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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