Variant report

Variant	esv1810696
Chromosome Location	chr22:23478573-23479663
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	EBF1	chr22:23479406-23479713	GM12878	blood:	n/a	n/a
2	EBF1	chr22:23479350-23479790	GM12878	blood:	n/a	n/a
3	EBF1	chr22:23478198-23478592	GM12878	blood:	n/a	n/a
4	EBF1	chr22:23478222-23478604	GM12878	blood:	n/a	n/a
5	IKZF1	chr22:23479607-23481463	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:23478294-23478636	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:23479478-23479794	GM12878	blood:	n/a	n/a
8	POU2F2	chr22:23478211-23478663	GM12878	blood:	n/a	n/a
9	POU2F2	chr22:23479391-23479750	GM12878	blood:	n/a	chr22:23479563-23479573 chr22:23479560-23479575 chr22:23479564-23479571 chr22:23479563-23479572 chr22:23479562-23479572 chr22:23479562-23479574 chr22:23479563-23479573
10	RUNX3	chr22:23478712-23478972	GM12878	blood:	n/a	n/a
11	YY1	chr22:23479636-23479939	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221069	TF binding region
RTDR1	TF binding region
ENSG00000272019	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 206 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150081863	chr22:23478678-23478679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9612240	chr22:23478695-23478696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs56022620	chr22:23478780-23478781	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs147780841	chr22:23478817-23478818	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs13054889	chr22:23478837-23478838	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549255770	chr22:23478888-23478889	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs565374531	chr22:23478934-23478935	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs528058370	chr22:23478938-23478939	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs577120196	chr22:23479055-23479056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550936961	chr22:23479080-23479081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571027371	chr22:23479175-23479176	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573300627	chr22:23479185-23479186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569597198	chr22:23479198-23479199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535421187	chr22:23479269-23479270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56273551	chr22:23479273-23479274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537111028	chr22:23479303-23479304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141221555	chr22:23479306-23479307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570229814	chr22:23479333-23479334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555174162	chr22:23479372-23479373	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs371989430	chr22:23479419-23479420	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs556009585	chr22:23479432-23479433	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs572079421	chr22:23479525-23479526	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs6519415	chr22:23479559-23479560	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs28377884	chr22:23479603-23479604	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs558149839	chr22:23479618-23479619	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs8141175	chr22:23479663-23479664	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:206)

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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23453200-23484800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:23470800-23483600	Weak transcription	Fetal Intestine Small	intestine
3	chr22:23471400-23483600	Weak transcription	Brain Anterior Caudate	brain
4	chr22:23471400-23483600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:23476200-23479600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:23476200-23483800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr22:23476600-23483600	Weak transcription	Fetal Stomach	stomach
8	chr22:23476800-23483800	Weak transcription	Right Ventricle	heart
9	chr22:23477000-23483800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr22:23477800-23479000	Enhancers	Dnd41	blood
11	chr22:23477800-23479400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:23477800-23479600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr22:23477800-23480000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr22:23477800-23481400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr22:23477800-23481600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:23477800-23481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:23477800-23483600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr22:23477800-23484200	Enhancers	Primary B cells from cord blood	blood
19	chr22:23477800-23485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr22:23478000-23479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:23478000-23481800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr22:23478000-23484000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:23478200-23479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:23478200-23479800	Enhancers	Duodenum Mucosa	Duodenum
25	chr22:23478200-23481200	Enhancers	Primary T cells from cord blood	blood
26	chr22:23478200-23481400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:23478200-23481400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr22:23478200-23481400	Enhancers	Fetal Thymus	thymus
29	chr22:23478200-23481600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:23478200-23483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:23478200-23483600	Enhancers	Primary B cells from peripheral blood	blood
32	chr22:23478400-23478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:23478400-23479000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:23478400-23479600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr22:23478400-23479600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr22:23478400-23479600	Enhancers	GM12878-XiMat	blood
37	chr22:23478400-23480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:23478400-23481600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr22:23478400-23482000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:23478400-23483600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:23478400-23483800	Weak transcription	Right Atrium	heart
42	chr22:23478600-23479000	Weak transcription	Liver	Liver
43	chr22:23478600-23479400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:23478600-23479400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr22:23478600-23479400	Enhancers	Spleen	Spleen
46	chr22:23478800-23479000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr22:23478800-23480400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:23479000-23479200	Enhancers	Liver	Liver
49	chr22:23479000-23479200	Flanking Active TSS	Dnd41	blood
50	chr22:23479000-23480200	Weak transcription	Rectal Mucosa Donor 29	rectum

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