Variant report

Variant	nsv1062906
Chromosome Location	chr22:23690300-23704868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23696355..23697873-chr22:23707561..23710037,2	MCF-7	breast:

Extended variants
information (count: 228 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:228 , 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	rs8135606	chr22:23692840-23692841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193106040	chr22:23692901-23692902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574197119	chr22:23692902-23692903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185880448	chr22:23692911-23692912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113884576	chr22:23692912-23692913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188118373	chr22:23692923-23692924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139573213	chr22:23692945-23692946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557870620	chr22:23692966-23692967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571124360	chr22:23692974-23692975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537067558	chr22:23692996-23692997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180969144	chr22:23693053-23693054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185391979	chr22:23693063-23693064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376592790	chr22:23693073-23693074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556850768	chr22:23693109-23693110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188640097	chr22:23693150-23693151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181667255	chr22:23693158-23693159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186799309	chr22:23693183-23693184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192092378	chr22:23693211-23693212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572303304	chr22:23693221-23693222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540856228	chr22:23693252-23693253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115521729	chr22:23693261-23693262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182082838	chr22:23693270-23693271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186556401	chr22:23693277-23693278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372236777	chr22:23693284-23693285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74623131	chr22:23693296-23693297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577811399	chr22:23693319-23693320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529139341	chr22:23693363-23693364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371502154	chr22:23693410-23693411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548909748	chr22:23693464-23693465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189772453	chr22:23693515-23693516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117195559	chr22:23693572-23693573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551163568	chr22:23693573-23693574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144360599	chr22:23693609-23693610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9624127	chr22:23693618-23693619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562912865	chr22:23693621-23693622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550586754	chr22:23693641-23693642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182397209	chr22:23693653-23693654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536135375	chr22:23693694-23693695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375109293	chr22:23693720-23693721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5759740	chr22:23693726-23693727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556059052	chr22:23693749-23693750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572513552	chr22:23693762-23693763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535241756	chr22:23693783-23693784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372446757	chr22:23693804-23693805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147823816	chr22:23693866-23693867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6003641	chr22:23693897-23693898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs12165974	chr22:23693911-23693912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12165450	chr22:23693940-23693941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141482456	chr22:23693968-23693969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542525584	chr22:23693988-23693989	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:212)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23692800-23694000	Enhancers	Placenta	Placenta
2	chr22:23695400-23695600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr22:23698600-23699600	Enhancers	Liver	Liver
4	chr22:23698800-23700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:23699000-23699200	Enhancers	Brain Hippocampus Middle	brain
6	chr22:23699000-23699400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:23699200-23699400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:23699200-23699400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr22:23699200-23699600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr22:23699200-23699800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:23699200-23699800	Enhancers	Adipose Nuclei	Adipose
12	chr22:23699400-23699600	Enhancers	Brain Substantia Nigra	brain
13	chr22:23699600-23702600	Weak transcription	Brain Inferior Temporal Lobe	brain

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