Variant report

Variant	esv3321883
Chromosome Location	chr22:20323352-20325850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

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	BCL11A	chr22:20325300-20325448	GM12878	blood:	n/a	n/a
3	BHLHE40	chr22:20325700-20326055	HepG2	liver:	n/a	n/a
4	BHLHE40	chr22:20325281-20325466	HepG2	liver:	n/a	n/a
5	EBF1	chr22:20325783-20325968	GM12878	blood:	n/a	n/a
6	ELF1	chr22:20324133-20324398	K562	blood:	n/a	n/a
7	EP300	chr22:20325344-20325510	GM12878	blood:	n/a	n/a
8	EP300	chr22:20325724-20326059	GM12878	blood:	n/a	n/a
9	FOSL2	chr22:20325676-20326072	HepG2	liver:	n/a	n/a
10	FOSL2	chr22:20325761-20326060	HepG2	liver:	n/a	n/a
11	FOXA1	chr22:20325597-20326070	HepG2	liver:	n/a	n/a
12	HEY1	chr22:20325700-20325949	HepG2	liver:	n/a	n/a
13	HEY1	chr22:20325333-20325548	K562	blood:	n/a	n/a
14	HEY1	chr22:20325780-20325969	HepG2	liver:	n/a	n/a
15	HEY1	chr22:20325847-20326057	K562	blood:	n/a	n/a
16	IRF4	chr22:20325340-20325612	GM12878	blood:	n/a	n/a
17	JUND	chr22:20323283-20323517	HepG2	liver:	n/a	n/a
18	JUND	chr22:20325780-20325909	HepG2	liver:	n/a	n/a
19	JUND	chr22:20325722-20326034	HepG2	liver:	n/a	n/a
20	JUND	chr22:20325338-20325510	HepG2	liver:	n/a	n/a
21	KAP1	chr22:20324242-20324391	K562	blood:	n/a	n/a
22	NR2F2	chr22:20325368-20325753	K562	blood:	n/a	n/a
23	PAX5	chr22:20325668-20326085	GM12878	blood:	n/a	n/a
24	POLR2A	chr22:20325726-20325977	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:20325780-20325966	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr22:20325566-20326373	K562	blood:	n/a	n/a
27	POLR2A	chr22:20325340-20326547	H1-hESC	embryonic stem cell:	n/a	n/a
28	POU2F2	chr22:20325314-20325441	GM12878	blood:	n/a	n/a
29	POU2F2	chr22:20325814-20326120	GM12878	blood:	n/a	n/a
30	POU2F2	chr22:20325268-20325631	GM12878	blood:	n/a	n/a
31	POU2F2	chr22:20323276-20323400	GM12878	blood:	n/a	n/a
32	RXRA	chr22:20325660-20326518	HepG2	liver:	n/a	n/a
33	RXRA	chr22:20325357-20325554	HepG2	liver:	n/a	n/a
34	RXRA	chr22:20325712-20325969	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr22:20325292-20325451	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr22:20325323-20325433	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr22:20325791-20325958	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr22:20325718-20326038	HepG2	liver:	n/a	n/a
39	SIX5	chr22:20325692-20326022	GM12878	blood:	n/a	n/a
40	SIX5	chr22:20323248-20323608	K562	blood:	n/a	n/a
41	SIX5	chr22:20325278-20325614	K562	blood:	n/a	n/a
42	SIX5	chr22:20325784-20326104	K562	blood:	n/a	n/a
43	SIX5	chr22:20325359-20325518	K562	blood:	n/a	n/a
44	SP1	chr22:20325692-20326058	HepG2	liver:	n/a	n/a
45	SP1	chr22:20325269-20325603	HepG2	liver:	n/a	n/a
46	SP1	chr22:20325696-20325965	GM12878	blood:	n/a	n/a
47	SP1	chr22:20325327-20325394	HepG2	liver:	n/a	n/a
48	SP1	chr22:20325750-20325905	HepG2	liver:	n/a	n/a
49	SPI1	chr22:20325314-20325439	GM12878	blood:	n/a	n/a
50	SPI1	chr22:20325354-20325548	GM12878	blood:	n/a	n/a

No data

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

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

No data

Variant related genes	Relation type
ENSG00000188424	TF binding region

Extended variants
information (count: 215 )
Associated
traits (count: 229 )

Variant overlapped rSNPs/rCNVs (count:215 , 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	rs371426394	chr22:20323401-20323402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs373228292	chr22:20323413-20323414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376183278	chr22:20323466-20323467	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559099170	chr22:20323502-20323503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572788271	chr22:20323511-20323512	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575669705	chr22:20323529-20323530	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544634339	chr22:20323555-20323556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs193133344	chr22:20323563-20323564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs183016293	chr22:20323564-20323565	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs368522062	chr22:20323567-20323568	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370562227	chr22:20323595-20323596	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs373997200	chr22:20323599-20323600	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542944590	chr22:20323601-20323602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367865025	chr22:20323618-20323619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187681236	chr22:20323625-20323626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551012834	chr22:20323638-20323639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374179616	chr22:20323644-20323645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201871230	chr22:20323650-20323651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62217986	chr22:20323675-20323676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75528307	chr22:20323695-20323696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184006826	chr22:20323711-20323712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564645691	chr22:20323714-20323715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530387458	chr22:20323720-20323721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550182535	chr22:20323724-20323725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377147649	chr22:20323730-20323731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62217987	chr22:20323742-20323743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189647349	chr22:20323744-20323745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372709024	chr22:20323746-20323747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547310211	chr22:20323752-20323753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375865389	chr22:20323762-20323763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192621813	chr22:20323776-20323777	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs184468287	chr22:20323778-20323779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs575830065	chr22:20323780-20323781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190592641	chr22:20323789-20323790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112196620	chr22:20323801-20323802	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182027416	chr22:20323807-20323808	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538373155	chr22:20323811-20323812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554653171	chr22:20323812-20323813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs372233359	chr22:20323820-20323821	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376871743	chr22:20323846-20323847	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368888170	chr22:20323871-20323872	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs373401447	chr22:20323876-20323877	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs111213243	chr22:20323903-20323904	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200492136	chr22:20323905-20323906	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs574819601	chr22:20323930-20323931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542556684	chr22:20323937-20323938	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs544240222	chr22:20323954-20323955	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs546241440	chr22:20323963-20323964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186266553	chr22:20323976-20323977	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199719896	chr22:20323978-20323979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:229)

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

Chromatin state (count:7 , 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

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