Variant report

Variant	nsv514965
Chromosome Location	chr22:23808586-23828096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

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:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-2	chr22:23812995-23813350	ENSG00000178248
2	lnc-IGLL1-2	chr22:23815565-23815598	ENSG00000178248
3	lnc-IGLL1-2	chr22:23822604-23822687	ENSG00000178248
4	lnc-IGLL1-2	chr22:23824762-23824792	ENSG00000178248
5	lnc-IGLL1-2	chr22:23825255-23825313	ENSG00000178248
6	lnc-IGLL1-2	chr22:23816064-23816125	ENSG00000178248
7	lnc-IGLL1-2	chr22:23812181-23812224	ENSG00000178248
8	lnc-IGLL1-2	chr22:23812502-23812523	ENSG00000178248

No data

Extended variants
information (count: 896 )
Associated
traits (count: 214 )

Variant overlapped rSNPs/rCNVs (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192418440	chr22:23808594-23808595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184757844	chr22:23808601-23808602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189610665	chr22:23808605-23808606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576939904	chr22:23808606-23808607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545764233	chr22:23808650-23808651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371226182	chr22:23808691-23808692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562521907	chr22:23808692-23808693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576063101	chr22:23808713-23808714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542098930	chr22:23808725-23808726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117398363	chr22:23808732-23808733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527435470	chr22:23808740-23808741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547286444	chr22:23808741-23808742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564138022	chr22:23808753-23808754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533085758	chr22:23808765-23808766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549920779	chr22:23808774-23808775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569632515	chr22:23808810-23808811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199502344	chr22:23808829-23808830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528902186	chr22:23808845-23808846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181375234	chr22:23808848-23808849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7292793	chr22:23808857-23808858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562140184	chr22:23808866-23808867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534389833	chr22:23808873-23808874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554099779	chr22:23808878-23808879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570734176	chr22:23808882-23808883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145011572	chr22:23808891-23808892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556248309	chr22:23808894-23808895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117978146	chr22:23808910-23808911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138788148	chr22:23808924-23808925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112268527	chr22:23808975-23808976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115318657	chr22:23808976-23808977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541195141	chr22:23809034-23809035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374979340	chr22:23809047-23809048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564241744	chr22:23809073-23809074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371933730	chr22:23809083-23809084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533173485	chr22:23809090-23809091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369104531	chr22:23809106-23809107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144754759	chr22:23809127-23809128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373140232	chr22:23809140-23809141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563422412	chr22:23809156-23809157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528873672	chr22:23809175-23809176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1964955	chr22:23809178-23809179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1964956	chr22:23809180-23809181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1964957	chr22:23809181-23809182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1964958	chr22:23809182-23809183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189101476	chr22:23809235-23809236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181807118	chr22:23809266-23809267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187300406	chr22:23809277-23809278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570670558	chr22:23809329-23809330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539647194	chr22:23809342-23809343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548595164	chr22:23809380-23809381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:214)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

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	chr22:23808000-23808800	Enhancers	Fetal Thymus	thymus
5	chr22:23808800-23813000	Weak transcription	A549	lung
6	chr22:23809400-23810600	Enhancers	HepG2	liver
7	chr22:23812200-23812400	Enhancers	HepG2	liver
8	chr22:23812800-23813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:23813000-23814400	Enhancers	HepG2	liver
10	chr22:23813200-23813400	Enhancers	A549	lung
11	chr22:23813400-23814000	Enhancers	Fetal Brain Male	brain
12	chr22:23813800-23814200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr22:23814000-23815600	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:23814000-23815600	Weak transcription	Fetal Brain Male	brain
15	chr22:23814200-23815400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:23815200-23815400	Enhancers	Primary B cells from cord blood	blood
17	chr22:23815400-23817000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr22:23815600-23816400	Enhancers	Fetal Brain Male	brain
19	chr22:23816000-23816200	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:23816000-23817200	Enhancers	Brain Germinal Matrix	brain
21	chr22:23816200-23817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:23816200-23817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:23816200-23817000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:23816200-23817000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr22:23819600-23821400	Enhancers	Dnd41	blood
26	chr22:23820400-23820600	Enhancers	Small Intestine	intestine
27	chr22:23820400-23820800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:23820400-23820800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:23820600-23821200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:23821400-23825200	Weak transcription	Dnd41	blood
31	chr22:23823600-23824200	Enhancers	Fetal Thymus	thymus
32	chr22:23825200-23825800	Enhancers	Dnd41	blood
33	chr22:23825800-23827800	Weak transcription	Dnd41	blood
34	chr22:23826600-23827000	Bivalent Enhancer	HepG2	liver
35	chr22:23827800-23828000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:23827800-23828000	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr22:23827800-23828000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr22:23827800-23828000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr22:23827800-23828000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr22:23827800-23828000	Flanking Active TSS	Esophagus	oesophagus
41	chr22:23827800-23828000	Enhancers	Gastric	stomach
42	chr22:23827800-23828000	Enhancers	Pancreas	Pancrea
43	chr22:23827800-23828000	Enhancers	Psoas Muscle	Psoas
44	chr22:23827800-23828000	ZNF genes & repeats	Right Ventricle	heart
45	chr22:23827800-23828000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr22:23827800-23828000	Bivalent Enhancer	Small Intestine	intestine
47	chr22:23827800-23828000	ZNF genes & repeats	Thymus	Thymus
48	chr22:23827800-23828000	ZNF genes & repeats	HUVEC	blood vessel
49	chr22:23827800-23832600	Enhancers	Dnd41	blood
50	chr22:23828000-23828800	Weak transcription	HUVEC	blood vessel

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