Variant report

Variant	esv3418000
Chromosome Location	chr22:23731015-23731436
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	POLR2A	chr22:23731436-23731443	K562	blood:	n/a	n/a
2	POLR2A	chr22:23731090-23731166	A549	lung:	n/a	n/a
3	POLR2A	chr22:23731054-23731433	A549	lung:	n/a	n/a

Variant related genes	Relation type
CES5AP1	TF binding region
ENSG00000248409	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540936676	chr22:23731016-23731017	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529532063	chr22:23731017-23731018	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532735814	chr22:23731041-23731042	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373705271	chr22:23731045-23731046	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552523547	chr22:23731074-23731075	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs111401008	chr22:23731090-23731091	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs73392651	chr22:23731093-23731094	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543691163	chr22:23731100-23731101	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs113275309	chr22:23731132-23731133	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs58355530	chr22:23731138-23731139	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs56899354	chr22:23731139-23731140	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs112031867	chr22:23731142-23731143	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs557063301	chr22:23731143-23731144	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs111387396	chr22:23731145-23731146	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs61407799	chr22:23731148-23731149	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs187032594	chr22:23731149-23731150	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs531708522	chr22:23731157-23731158	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs12483933	chr22:23731168-23731169	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs56782634	chr22:23731181-23731182	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs59582068	chr22:23731182-23731183	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs112603077	chr22:23731186-23731187	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs397964286	chr22:23731190-23731191	Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs565536984	chr22:23731209-23731210	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs113720886	chr22:23731210-23731211	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs113966259	chr22:23731224-23731225	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs144362855	chr22:23731228-23731229	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs80223404	chr22:23731252-23731253	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
28	rs77181277	chr22:23731257-23731258	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs373774798	chr22:23731259-23731260	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs71200854	chr22:23731264-23731265	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs11090241	chr22:23731276-23731277	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
32	rs573058472	chr22:23731280-23731281	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs13058103	chr22:23731281-23731282	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs540575293	chr22:23731294-23731295	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs189167984	chr22:23731295-23731296	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs35667903	chr22:23731300-23731301	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs13057313	chr22:23731308-23731309	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs532420562	chr22:23731313-23731314	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs11090242	chr22:23731319-23731320	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs11090243	chr22:23731324-23731325	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs576174987	chr22:23731327-23731328	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs535545626	chr22:23731337-23731338	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs375896570	chr22:23731338-23731339	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs572059407	chr22:23731360-23731361	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs540715999	chr22:23731361-23731362	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs560816269	chr22:23731363-23731364	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs5759763	chr22:23731367-23731368	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546343008	chr22:23731368-23731369	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs111358945	chr22:23731381-23731382	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs533700480	chr22:23731402-23731403	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 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	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23725400-23736800	Weak transcription	Fetal Brain Female	brain
2	chr22:23726400-23734600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:23726600-23731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:23726800-23731400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:23726800-23733200	Weak transcription	Lung	lung
6	chr22:23726800-23739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:23726800-23744200	Weak transcription	Brain Anterior Caudate	brain
8	chr22:23727400-23731200	Weak transcription	Fetal Intestine Small	intestine
9	chr22:23728200-23731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:23728600-23733800	Weak transcription	Ovary	ovary
11	chr22:23728600-23744200	Weak transcription	Brain Angular Gyrus	brain
12	chr22:23728600-23744200	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:23728800-23738400	Weak transcription	Fetal Thymus	thymus
14	chr22:23730000-23731600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:23730200-23731800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:23730400-23731600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:23730400-23733800	Weak transcription	Brain Germinal Matrix	brain
18	chr22:23730800-23731400	Enhancers	HepG2	liver
19	chr22:23730800-23731600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:23730800-23732000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:23731000-23733200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:23731200-23731800	Enhancers	Fetal Intestine Small	intestine
23	chr22:23731200-23732000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr22:23731200-23732200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:23731400-23731600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:23731400-23731800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:23731400-23732000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr22:23731400-23732000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:23731400-23732000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr22:23731400-23732000	Enhancers	Fetal Intestine Large	intestine
31	chr22:23731400-23732000	Flanking Active TSS	HepG2	liver

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