Variant report

Variant	nsv3550
Chromosome Location	chr22:16884806-16918945
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	ARID3A	chr22:16912144-16912145	K562	blood:	n/a	n/a
2	ARID3A	chr22:16887810-16887889	K562	blood:	n/a	n/a
3	ATF1	chr22:16916895-16916925	K562	blood:	n/a	n/a
4	BACH1	chr22:16900527-16900640	K562	blood:	n/a	n/a
5	BACH1	chr22:16910900-16910911	K562	blood:	n/a	n/a
6	BACH1	chr22:16910458-16910647	K562	blood:	n/a	n/a
7	BATF	chr22:16905672-16905908	GM12878	blood:	n/a	n/a
8	BHLHE40	chr22:16885131-16885151	K562	blood:	n/a	n/a
9	BHLHE40	chr22:16885451-16885761	K562	blood:	n/a	n/a
10	BHLHE40	chr22:16913871-16914129	HepG2	liver:	n/a	n/a
11	BHLHE40	chr22:16904403-16904804	K562	blood:	n/a	chr22:16904588-16904601 chr22:16904590-16904599 chr22:16904590-16904599 chr22:16904591-16904600 chr22:16904534-16904550
12	CEBPB	chr22:16885627-16885807	K562	blood:	n/a	chr22:16885726-16885739 chr22:16885726-16885739 chr22:16885726-16885737
13	CHD2	chr22:16904355-16904768	K562	blood:	n/a	n/a
14	CTCF	chr22:16885569-16885647	K562	blood:	n/a	n/a
15	CTCF	chr22:16902019-16902103	LNCaP	prostate:	n/a	n/a
16	CTCF	chr22:16906658-16906698	Lung_OC	lung:	n/a	n/a
17	CTCF	chr22:16900810-16900876	LNCaP	prostate:	n/a	n/a
18	CTCF	chr22:16914314-16914395	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr22:16911654-16911730	GM13976	blood:	n/a	n/a
20	CTCF	chr22:16899980-16900130	HCT-116	colon:	n/a	n/a
21	E2F6	chr22:16904591-16904720	K562	blood:	n/a	n/a
22	EBF1	chr22:16918045-16918204	GM12878	blood:	n/a	n/a
23	EP300	chr22:16900090-16900249	GM12878	blood:	n/a	n/a
24	EP300	chr22:16906476-16906824	GM12878	blood:	n/a	n/a
25	EP300	chr22:16894290-16894431	K562	blood:	n/a	n/a
26	EP300	chr22:16904935-16905184	GM12878	blood:	n/a	n/a
27	EP300	chr22:16899806-16900079	GM12878	blood:	n/a	n/a
28	FOSL2	chr22:16899922-16900310	HepG2	liver:	n/a	n/a
29	FOSL2	chr22:16899981-16900283	HepG2	liver:	n/a	n/a
30	FOSL2	chr22:16888647-16889085	HepG2	liver:	n/a	chr22:16888741-16888748 chr22:16888819-16888830
31	FOSL2	chr22:16915694-16916027	HepG2	liver:	n/a	n/a
32	FOSL2	chr22:16889094-16889463	HepG2	liver:	n/a	chr22:16889251-16889262
33	FOSL2	chr22:16890845-16891166	HepG2	liver:	n/a	n/a
34	FOSL2	chr22:16905934-16906184	HepG2	liver:	n/a	n/a
35	FOSL2	chr22:16910237-16910550	HepG2	liver:	n/a	n/a
36	FOSL2	chr22:16905847-16906214	HepG2	liver:	n/a	n/a
37	FOSL2	chr22:16888595-16889064	HepG2	liver:	n/a	chr22:16888741-16888748 chr22:16888819-16888830
38	FOXA1	chr22:16917405-16917716	HepG2	liver:	n/a	n/a
39	GATA2	chr22:16906618-16906865	K562	blood:	n/a	n/a
40	GATA2	chr22:16915638-16915899	K562	blood:	n/a	n/a
41	HCFC1	chr22:16910402-16910403	K562	blood:	n/a	n/a
42	HEY1	chr22:16894681-16895050	K562	blood:	n/a	n/a
43	HEY1	chr22:16918933-16919177	K562	blood:	n/a	n/a
44	IRF1	chr22:16909479-16909480	K562	blood:	n/a	n/a
45	IRF1	chr22:16885761-16885915	K562	blood:	n/a	n/a
46	IRF1	chr22:16904136-16904331	K562	blood:	n/a	chr22:16904253-16904267 chr22:16904183-16904197 chr22:16904185-16904195
47	IRF1	chr22:16886926-16886962	K562	blood:	n/a	chr22:16886951-16886961
48	IRF1	chr22:16910795-16910847	K562	blood:	n/a	n/a
49	JUN	chr22:16908096-16908278	K562	blood:	n/a	n/a
50	KAP1	chr22:16894287-16894647	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL17RA-22	chr22:16905250-16905937	NONHSAT083122
2	lnc-IL17RA-23	chr22:16892151-16892320	NONHSAT083121
3	lnc-IL17RA-22	chr22:16905970-16906213	NONHSAT083122
4	lnc-IL17RA-22	chr22:16904668-16904833	NONHSAT083122
5	lnc-IL17RA-23	chr22:16898526-16900734	NONHSAT083121
6	lnc-CCT8L2-5	chr22:16909690-16909904	NONHSAT083123
7	lnc-IL17RA-22	chr22:16906243-16906756	NONHSAT083122
8	lnc-CCT8L2-5	chr22:16915106-16915196	NONHSAT083123
9	lnc-CCT8L2-5	chr22:16914068-16914203	NONHSAT083123

Variant related genes	Relation type
PABPC1P9	TF binding region
ENSG00000226160	TF binding region

Extended variants
information (count: 543 )
Associated
traits (count: 198 )

Variant overlapped rSNPs/rCNVs (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12152180	chr22:16884830-16884831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs5993971	chr22:16884842-16884843	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77357665	chr22:16884856-16884857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572532877	chr22:16884861-16884862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs5993973	chr22:16884869-16884870	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564272040	chr22:16884883-16884884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73387985	chr22:16884913-16884914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531665934	chr22:16884942-16884943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543689408	chr22:16884961-16884962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111451220	chr22:16884971-16884972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199668438	chr22:16884972-16884973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368095931	chr22:16884975-16884976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529445853	chr22:16884978-16884979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551300940	chr22:16884979-16884980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200643107	chr22:16884980-16884981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs5748584	chr22:16884985-16884986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561801646	chr22:16885000-16885001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs117977527	chr22:16885002-16885003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs116685093	chr22:16885012-16885013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs369261425	chr22:16885022-16885023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201449391	chr22:16885037-16885038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547034969	chr22:16885054-16885055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559592983	chr22:16885097-16885098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375989848	chr22:16885115-16885116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200645818	chr22:16885116-16885117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs112190006	chr22:16885123-16885124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs374874375	chr22:16885163-16885164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs538019988	chr22:16885384-16885385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs186597123	chr22:16885389-16885390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111748332	chr22:16885409-16885410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568613244	chr22:16885412-16885413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73387987	chr22:16885462-16885463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs79341485	chr22:16885470-16885471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535850101	chr22:16885473-16885474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554199492	chr22:16885474-16885475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs78335153	chr22:16885502-16885503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572619373	chr22:16885513-16885514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539920804	chr22:16885545-16885546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558019197	chr22:16885558-16885559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576202660	chr22:16885565-16885566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79468124	chr22:16885589-16885590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543227214	chr22:16885609-16885610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs80172102	chr22:16885612-16885613	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs5746882	chr22:16885620-16885621	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573842135	chr22:16885627-16885628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565395960	chr22:16885630-16885631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs191009094	chr22:16885631-16885632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs115387931	chr22:16885634-16885635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs9617907	chr22:16885676-16885677	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140136915	chr22:16885685-16885686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:198)

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	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Epilepsy	20923578	CNVD
Acute lymphoblastic leukemia	19100363	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	17142309	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22591714	CNVD
Autism	22958593	CNVD
Digeorge syndrome	16199537	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22241247	CNVD
Autism	22241247	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	18628472	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian neoplasms	16753589	CNVD
Schizophrenia	21399695	CNVD
22q11.21 microdeletion syndrome	19193630	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
Schizophrenia	19197363	CNVD
Esophageal cancer	21851588	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:16904200-16904600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:16904200-16904600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:16904200-16904600	ZNF genes & repeats	Right Atrium	heart

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