Variant report

Variant	esv3376127
Chromosome Location	chr22:21465052-21472450
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	chr22:21468628-21469019	GM12878	blood:	n/a	n/a
2	BATF	chr22:21471783-21471995	GM12878	blood:	n/a	n/a
3	BATF	chr22:21469301-21469556	GM12878	blood:	n/a	chr22:21469418-21469429
4	BCL11A	chr22:21469248-21469721	GM12878	blood:	n/a	n/a
5	BCL11A	chr22:21470256-21470442	GM12878	blood:	n/a	n/a
6	BCL11A	chr22:21469187-21469804	GM12878	blood:	n/a	n/a
7	BCL11A	chr22:21470877-21471204	GM12878	blood:	n/a	chr22:21471143-21471151
8	BHLHE40	chr22:21469164-21469628	HepG2	liver:	n/a	n/a
9	CTCF	chr22:21465927-21465973	Kidney_OC	kidney:	n/a	n/a
10	EBF1	chr22:21472028-21472315	GM12878	blood:	n/a	n/a
11	EBF1	chr22:21469190-21469514	GM12878	blood:	n/a	n/a
12	EBF1	chr22:21470800-21471228	GM12878	blood:	n/a	n/a
13	EBF1	chr22:21471720-21471998	GM12878	blood:	n/a	n/a
14	EBF1	chr22:21469246-21469624	GM12878	blood:	n/a	n/a
15	EBF1	chr22:21468851-21469131	GM12878	blood:	n/a	n/a
16	EBF1	chr22:21470598-21470799	GM12878	blood:	n/a	n/a
17	EP300	chr22:21471512-21471923	GM12878	blood:	n/a	n/a
18	EP300	chr22:21469363-21469891	GM12878	blood:	n/a	n/a
19	EP300	chr22:21472054-21472297	GM12878	blood:	n/a	n/a
20	EP300	chr22:21467218-21467505	GM12878	blood:	n/a	n/a
21	EP300	chr22:21468448-21468803	GM12878	blood:	n/a	n/a
22	EP300	chr22:21469244-21470269	GM12878	blood:	n/a	n/a
23	EP300	chr22:21471009-21471360	GM12878	blood:	n/a	n/a
24	FOSL2	chr22:21470778-21471527	HepG2	liver:	n/a	chr22:21471359-21471368 chr22:21471049-21471058
25	FOSL2	chr22:21471687-21471933	HepG2	liver:	n/a	n/a
26	FOSL2	chr22:21469191-21469937	HepG2	liver:	n/a	n/a
27	FOSL2	chr22:21469157-21470144	HepG2	liver:	n/a	n/a
28	FOXA1	chr22:21469127-21470019	HepG2	liver:	n/a	n/a
29	FOXP2	chr22:21469286-21469624	PFSK-1	brain:	n/a	n/a
30	GATA2	chr22:21468453-21470339	K562	blood:	n/a	n/a
31	GATA2	chr22:21467899-21468367	K562	blood:	n/a	n/a
32	GATA2	chr22:21467099-21467655	K562	blood:	n/a	n/a
33	GATA2	chr22:21470496-21471581	K562	blood:	n/a	chr22:21471224-21471237
34	GATA2	chr22:21471645-21471917	K562	blood:	n/a	n/a
35	HEY1	chr22:21470951-21471443	K562	blood:	n/a	n/a
36	HEY1	chr22:21467160-21467504	K562	blood:	n/a	n/a
37	HEY1	chr22:21469179-21470375	K562	blood:	n/a	n/a
38	HEY1	chr22:21469443-21469623	HepG2	liver:	n/a	n/a
39	HEY1	chr22:21469168-21469802	HepG2	liver:	n/a	n/a
40	HEY1	chr22:21469260-21469441	HepG2	liver:	n/a	n/a
41	HEY1	chr22:21471633-21472115	K562	blood:	n/a	n/a
42	HEY1	chr22:21469183-21470441	K562	blood:	n/a	n/a
43	HEY1	chr22:21470892-21472699	K562	blood:	n/a	n/a
44	IRF4	chr22:21469178-21470252	GM12878	blood:	n/a	n/a
45	IRF4	chr22:21470791-21471611	GM12878	blood:	n/a	n/a
46	IRF4	chr22:21470796-21471274	GM12878	blood:	n/a	n/a
47	IRF4	chr22:21469234-21470082	GM12878	blood:	n/a	n/a
48	JUND	chr22:21469245-21470190	HepG2	liver:	n/a	n/a
49	JUND	chr22:21471247-21471493	HepG2	liver:	n/a	chr22:21471359-21471368
50	JUND	chr22:21469295-21469571	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
BCRP2	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187044575	chr22:21465081-21465082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567913334	chr22:21465098-21465099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369716961	chr22:21465141-21465142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9625569	chr22:21465164-21465165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554078072	chr22:21465170-21465171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536643769	chr22:21465173-21465174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140394	chr22:21465226-21465227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566937076	chr22:21465249-21465250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192219944	chr22:21465259-21465260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528538555	chr22:21465267-21465268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185438777	chr22:21465295-21465296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569991428	chr22:21465306-21465307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201323432	chr22:21465329-21465330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201923128	chr22:21465330-21465331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200396485	chr22:21465332-21465333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397868145	chr22:21465335-21465336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554816438	chr22:21465344-21465345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574984683	chr22:21465365-21465366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182972052	chr22:21465366-21465367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561692528	chr22:21465470-21465471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560869574	chr22:21465587-21465588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34708357	chr22:21465607-21465608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531967124	chr22:21465667-21465668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545359666	chr22:21465708-21465709	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112713299	chr22:21465737-21465738	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs9613676	chr22:21465771-21465772	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11703181	chr22:21465780-21465781	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2541930	chr22:21465835-21465836	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548278344	chr22:21465951-21465952	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568154438	chr22:21465971-21465972	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs527529800	chr22:21466009-21466010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187347283	chr22:21466036-21466037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145229698	chr22:21466039-21466040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547351488	chr22:21466056-21466057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140395	chr22:21466070-21466071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542584953	chr22:21466077-21466078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137899890	chr22:21466097-21466098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570792049	chr22:21466132-21466133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142439426	chr22:21466188-21466189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539757821	chr22:21466303-21466304	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs140396	chr22:21466469-21466470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62238572	chr22:21466889-21466890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12158878	chr22:21466908-21466909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62231317	chr22:21466930-21466931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201625140	chr22:21467136-21467137	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs140397	chr22:21467242-21467243	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201994191	chr22:21467411-21467412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368114381	chr22:21467548-21467549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199959054	chr22:21467805-21467806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372385819	chr22:21467947-21467948	Weak transcription	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	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
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
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
Glioblastoma multiforme	22286061	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
22q11.2 deletion syndrome	22563040	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
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21457400-21470400	Weak transcription	Right Atrium	heart

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