Variant report

Variant	nsv966164
Chromosome Location	chr22:23807419-23812596
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	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:
2	chr22:23811117..23813674-chr22:23862180..23864787,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-2	chr22:23812181-23812224	ENSG00000178248
2	lnc-IGLL1-2	chr22:23812502-23812523	ENSG00000178248

Extended variants
information (count: 246 )
Associated
traits (count: 213 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs73391303	chr22:23807446-23807447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568700468	chr22:23807511-23807512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537694012	chr22:23807522-23807523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538899601	chr22:23807525-23807526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187835400	chr22:23807527-23807528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568157183	chr22:23807561-23807562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12168060	chr22:23807581-23807582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9624182	chr22:23807603-23807604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs576792860	chr22:23807632-23807633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545701577	chr22:23807639-23807640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190887487	chr22:23807671-23807672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62238841	chr22:23807720-23807721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544825958	chr22:23807728-23807729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2000464	chr22:23807739-23807740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs115829100	chr22:23807798-23807799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147430267	chr22:23807837-23807838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115123976	chr22:23807842-23807843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560520130	chr22:23807919-23807920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574721018	chr22:23807935-23807936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532439208	chr22:23807963-23807964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151302043	chr22:23807996-23807997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540946913	chr22:23808013-23808014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183153968	chr22:23808037-23808038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531362378	chr22:23808083-23808084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547997351	chr22:23808090-23808091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568034434	chr22:23808155-23808156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533864225	chr22:23808157-23808158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560281194	chr22:23808183-23808184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533767676	chr22:23808189-23808190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539489500	chr22:23808208-23808209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188042841	chr22:23808273-23808274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556436756	chr22:23808292-23808293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5759825	chr22:23808296-23808297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375048388	chr22:23808302-23808303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573622642	chr22:23808308-23808309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191983650	chr22:23808321-23808322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117681963	chr22:23808333-23808334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184537927	chr22:23808343-23808344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187668060	chr22:23808399-23808400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140572452	chr22:23808400-23808401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528382916	chr22:23808408-23808409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368055892	chr22:23808409-23808410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150455125	chr22:23808436-23808437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562407315	chr22:23808442-23808443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192485480	chr22:23808461-23808462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548107723	chr22:23808488-23808489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185056497	chr22:23808513-23808514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527534557	chr22:23808533-23808534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189377410	chr22:23808545-23808546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570459302	chr22:23808551-23808552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:213)

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
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23792800-23812800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:23800400-23815200	Weak transcription	Primary B cells from cord blood	blood
3	chr22:23806000-23808600	Enhancers	Dnd41	blood
4	chr22:23807000-23808200	Weak transcription	Ovary	ovary
5	chr22:23807200-23808000	Weak transcription	Fetal Thymus	thymus
6	chr22:23808000-23808800	Enhancers	Fetal Thymus	thymus
7	chr22:23808800-23813000	Weak transcription	A549	lung
8	chr22:23809400-23810600	Enhancers	HepG2	liver
9	chr22:23812200-23812400	Enhancers	HepG2	liver

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