Variant report

Variant	esv20013
Chromosome Location	chr22:23668424-23672856
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	chr22:23668521-23668817	GM12878	blood:	n/a	n/a
2	BATF	chr22:23672445-23672773	GM12878	blood:	n/a	n/a
3	BATF	chr22:23672464-23672742	GM12878	blood:	n/a	n/a
4	BATF	chr22:23671503-23671725	GM12878	blood:	n/a	n/a
5	BCL11A	chr22:23669504-23669747	GM12878	blood:	n/a	n/a
6	CTCF	chr22:23668740-23668890	HAc	cerebellar:	n/a	n/a
7	CTCF	chr22:23668760-23668910	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr22:23668638-23668762	Pancreas_OC	pancreas:	n/a	chr22:23668703-23668721
9	CTCF	chr22:23668485-23668945	K562	blood:	n/a	chr22:23668703-23668721
10	CTCF	chr22:23668461-23669118	A549	lung:	n/a	chr22:23668703-23668721
11	CTCF	chr22:23668420-23668570	HVMF	connective:	n/a	n/a
12	CTCF	chr22:23668464-23669011	A549	lung:	n/a	chr22:23668703-23668721
13	CTCF	chr22:23668700-23668850	AG04450	lung:	n/a	chr22:23668703-23668721
14	CTCF	chr22:23668720-23668870	AG09319	gingival:	n/a	n/a
15	CTCF	chr22:23668720-23668870	HMF	breast:	n/a	n/a
16	CTCF	chr22:23668720-23668870	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr22:23669409-23669471	LNCaP	prostate:	n/a	n/a
18	CTCF	chr22:23668958-23668994	LNCaP	prostate:	n/a	n/a
19	CTCF	chr22:23668504-23669091	A549	lung:	n/a	chr22:23668703-23668721
20	CTCF	chr22:23668636-23668759	Lung_OC	lung:	n/a	chr22:23668703-23668721
21	CTCF	chr22:23668740-23668890	GM12864	blood:	n/a	n/a
22	CTCF	chr22:23668681-23668786	GM10248	blood:	n/a	chr22:23668703-23668721
23	CTCF	chr22:23668671-23668757	GM13977	blood:	n/a	chr22:23668703-23668721
24	CTCF	chr22:23668991-23669105	GM20000	blood:	n/a	n/a
25	CTCF	chr22:23668740-23668890	RPTEC	kidney:	n/a	n/a
26	CTCF	chr22:23668659-23668784	LNCaP	prostate:	n/a	chr22:23668703-23668721
27	CTCF	chr22:23668646-23668775	Kidney_OC	kidney:	n/a	chr22:23668703-23668721
28	CTCF	chr22:23668740-23668890	MCF-7	breast:	n/a	n/a
29	CTCF	chr22:23668681-23668735	GM13976	blood:	n/a	chr22:23668703-23668721
30	CTCF	chr22:23668720-23668870	BJ	skin:	n/a	n/a
31	CTCF	chr22:23668720-23668870	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr22:23668597-23668795	LNCaP	prostate:	n/a	chr22:23668703-23668721
33	CTCF	chr22:23668484-23668879	K562	blood:	n/a	chr22:23668703-23668721
34	CTCF	chr22:23668630-23668802	Medullo	brain:	n/a	chr22:23668703-23668721
35	CTCF	chr22:23668800-23668950	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr22:23668564-23668767	K562	blood:	n/a	chr22:23668703-23668721
37	CTCF	chr22:23668484-23668913	A549	lung:	n/a	chr22:23668703-23668721
38	EBF1	chr22:23668797-23669192	GM12878	blood:	n/a	n/a
39	EBF1	chr22:23668873-23669176	GM12878	blood:	n/a	n/a
40	EBF1	chr22:23668507-23668730	GM12878	blood:	n/a	n/a
41	EP300	chr22:23669483-23669762	GM12878	blood:	n/a	n/a
42	EP300	chr22:23668478-23668906	GM12878	blood:	n/a	n/a
43	FOSL2	chr22:23668436-23669158	HepG2	liver:	n/a	chr22:23668765-23668774 chr22:23668773-23668782
44	FOSL2	chr22:23668450-23668993	HepG2	liver:	n/a	chr22:23668765-23668774 chr22:23668773-23668782
45	FOXA1	chr22:23668812-23669222	HepG2	liver:	n/a	n/a
46	FOXA2	chr22:23668811-23669192	A549	lung:	n/a	n/a
47	FOXA2	chr22:23668826-23669111	A549	lung:	n/a	n/a
48	GABPA	chr22:23668878-23669091	Hela-S3	cervix:	n/a	n/a
49	GATA2	chr22:23671424-23671733	K562	blood:	n/a	n/a
50	GATA2	chr22:23668208-23669399	K562	blood:	n/a	chr22:23669053-23669063 chr22:23669309-23669320

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCR-1	chr22:23668803-23668978	XLOC_014170
2	lnc-BCR-1	chr22:23670511-23670680	XLOC_014170

Variant related genes	Relation type
ENSG00000236611	TF binding region
ENSG00000214526	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6003622	chr22:23668437-23668438	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs62219818	chr22:23668462-23668463	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs71320027	chr22:23668525-23668526	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs549976941	chr22:23668537-23668538	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs9624096	chr22:23668547-23668548	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs147072111	chr22:23668628-23668629	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs619677	chr22:23668664-23668665	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs180746725	chr22:23668776-23668777	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs71320029	chr22:23668790-23668791	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs200138727	chr22:23668867-23668868	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs9624099	chr22:23668888-23668889	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs9624100	chr22:23668889-23668890	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs5763374	chr22:23668899-23668900	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs550358673	chr22:23668900-23668901	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs570266382	chr22:23668908-23668909	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs3875951	chr22:23668970-23668971	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs71320030	chr22:23668997-23668998	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12159010	chr22:23669025-23669026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566193016	chr22:23669044-23669045	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201078547	chr22:23669094-23669095	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs191239923	chr22:23669106-23669107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147161308	chr22:23669116-23669117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs3897516	chr22:23669144-23669145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536949156	chr22:23669184-23669185	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556880698	chr22:23669194-23669195	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs28684450	chr22:23669221-23669222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28693684	chr22:23669263-23669264	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs28432257	chr22:23669316-23669317	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs8142706	chr22:23669324-23669325	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs8135553	chr22:23669327-23669328	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2080548	chr22:23669328-23669329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs28595198	chr22:23669334-23669335	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534917480	chr22:23669352-23669353	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199739172	chr22:23669358-23669359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs55886177	chr22:23669364-23669365	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs71200849	chr22:23669367-23669368	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs4050354	chr22:23669372-23669373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544647548	chr22:23669395-23669396	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs5759721	chr22:23669402-23669403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs4050355	chr22:23669436-23669437	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs3888491	chr22:23669440-23669441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs12329993	chr22:23669460-23669461	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556021109	chr22:23669478-23669479	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs947760	chr22:23669483-23669484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3865681	chr22:23669490-23669491	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9624103	chr22:23669578-23669579	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs28758354	chr22:23669646-23669647	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs544124964	chr22:23669653-23669654	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564012910	chr22:23669656-23669657	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs4050335	chr22:23669695-23669696	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:211)

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
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	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
low-grade B-cell lymphoma tumor	18367492	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	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23657800-23670800	Weak transcription	Fetal Brain Female	brain

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