Variant report

Variant	esv1841141
Chromosome Location	chr22:20891259-20908736
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	chr22:20907171-20907744	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:20903465-20903886	K562	blood:	n/a	n/a
3	ARID3A	chr22:20899932-20900833	K562	blood:	n/a	n/a
4	ARID3A	chr22:20906281-20906884	HepG2	liver:	n/a	n/a
5	ATF1	chr22:20903556-20904131	K562	blood:	n/a	n/a
6	ATF3	chr22:20906145-20906575	K562	blood:	n/a	n/a
7	BACH1	chr22:20899947-20900869	K562	blood:	n/a	n/a
8	BACH1	chr22:20901680-20901695	K562	blood:	n/a	n/a
9	BHLHE40	chr22:20905666-20905775	GM12878	blood:	n/a	n/a
10	BHLHE40	chr22:20907359-20907733	HepG2	liver:	n/a	n/a
11	BHLHE40	chr22:20903512-20904013	K562	blood:	n/a	n/a
12	BHLHE40	chr22:20900068-20900604	K562	blood:	n/a	n/a
13	CCNT2	chr22:20900027-20900673	K562	blood:	n/a	n/a
14	CEBPB	chr22:20900528-20900908	K562	blood:	n/a	n/a
15	CEBPB	chr22:20900046-20900317	K562	blood:	n/a	chr22:20900109-20900122
16	CHD2	chr22:20900006-20900099	K562	blood:	n/a	n/a
17	CREB1	chr22:20907239-20907838	HepG2	liver:	n/a	n/a
18	CTCF	chr22:20906420-20906570	GM12869	blood:	n/a	chr22:20906502-20906511
19	CTCF	chr22:20905460-20905610	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr22:20906460-20906610	AoAF	blood vessel:	n/a	chr22:20906502-20906511
21	CTCF	chr22:20906420-20906570	HFF	foreskin:	n/a	chr22:20906502-20906511
22	CTCF	chr22:20906420-20906570	NHEK	skin:	n/a	chr22:20906502-20906511
23	CTCF	chr22:20906460-20906610	HEK293	kidney:	n/a	chr22:20906502-20906511
24	CTCF	chr22:20906400-20906550	HMF	breast:	n/a	chr22:20906502-20906511
25	CTCF	chr22:20906440-20906590	SAEC	small airway:	n/a	chr22:20906502-20906511
26	CTCF	chr22:20903520-20903670	HAc	cerebellar:	n/a	chr22:20903616-20903625
27	CTCF	chr22:20903580-20903730	RPTEC	kidney:	n/a	chr22:20903616-20903625
28	CTCF	chr22:20906420-20906570	AG09319	gingival:	n/a	chr22:20906502-20906511
29	CTCF	chr22:20903540-20903690	HCPEpiC	choroid plexus:	n/a	chr22:20903616-20903625
30	CTCF	chr22:20906440-20906590	HCT-116	colon:	n/a	chr22:20906502-20906511
31	CTCF	chr22:20906420-20906570	WERI-Rb-1	eye:	n/a	chr22:20906502-20906511
32	CTCF	chr22:20906440-20906590	HPAF	blood vessel:	n/a	chr22:20906502-20906511
33	CTCF	chr22:20906440-20906590	NHLF	lung:	n/a	chr22:20906502-20906511
34	CTCF	chr22:20906620-20906770	HCM	heart:	n/a	n/a
35	CTCF	chr22:20906440-20906590	HAc	cerebellar:	n/a	chr22:20906502-20906511
36	CTCF	chr22:20906443-20906562	Fibrobl	skin:	n/a	chr22:20906502-20906511
37	CTCF	chr22:20906422-20906576	SK-N-SH_RA	brain:	n/a	chr22:20906502-20906511
38	CTCF	chr22:20906420-20906570	A549	lung:	n/a	chr22:20906502-20906511
39	CTCF	chr22:20906410-20906606	Pancreas_OC	pancreas:	n/a	chr22:20906502-20906511
40	CTCF	chr22:20906400-20906550	AG04449	skin:	n/a	chr22:20906502-20906511
41	CTCF	chr22:20906436-20906580	MCF-7	breast:	n/a	chr22:20906502-20906511
42	CTCF	chr22:20906420-20906570	HCFaa	heart:	n/a	chr22:20906502-20906511
43	CTCF	chr22:20906520-20906670	RPTEC	kidney:	n/a	n/a
44	CTCF	chr22:20906471-20906527	GM19238	blood:	n/a	chr22:20906502-20906511
45	CTCF	chr22:20906256-20906793	K562	blood:	n/a	chr22:20906502-20906511
46	CTCF	chr22:20906380-20906530	BE2_C	brain:	n/a	chr22:20906502-20906511
47	CTCF	chr22:20903660-20903810	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr22:20906400-20906550	GM12870	blood:	n/a	chr22:20906502-20906511
49	CTCF	chr22:20906400-20906550	AoAF	blood vessel:	n/a	chr22:20906502-20906511
50	CTCF	chr22:20906436-20906558	MCF-7	breast:	n/a	chr22:20906502-20906511

No.	Distal block	Cell Line	Cell type
1	chr22:20850978..20852801-chr22:20899950..20901982,2	K562	blood:
2	chr22:20880237..20882071-chr22:20889189..20891528,2	K562	blood:
3	chr22:20860546..20863254-chr22:20896654..20899308,2	MCF-7	breast:
4	chr22:20862350..20864694-chr22:20898466..20901814,5	K562	blood:
5	chr22:20901489..20903879-chr22:21334851..21336794,2	K562	blood:
6	chr22:20860252..20863583-chr22:20903242..20905913,3	K562	blood:
7	chr22:20895608..20897209-chr22:20902478..20904668,2	K562	blood:
8	chr22:20895608..20897209-chr22:20902478..20904668,2	K562	blood:
9	chr22:20884488..20886881-chr22:20898531..20901359,3	K562	blood:
10	chr22:20858215..20862241-chr22:20898253..20900872,4	K562	blood:
11	chr22:20876550..20878285-chr22:20890421..20892285,2	K562	blood:
12	chr22:20898841..20901052-chr22:20902342..20905070,2	K562	blood:
13	chr22:20886715..20888847-chr22:20897969..20900485,2	MCF-7	breast:
14	chr22:20882027..20883915-chr22:20900829..20903222,2	K562	blood:
15	chr22:20874544..20876395-chr22:20897559..20900700,3	K562	blood:
16	chr22:20881255..20883527-chr22:20900829..20903095,2	K562	blood:
17	chr22:20893028..20895779-chr22:20905114..20908022,2	K562	blood:
18	chr22:20898841..20901052-chr22:20902342..20905070,2	K562	blood:

Variant related genes	Relation type
MED15	TF binding region
ENSG00000272829	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000236003	chromatin interactions
ENSG00000099917	chromatin interactions

Extended variants
information (count: 687 )
Associated
traits (count: 226 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2269830	chr22:20891259-20891260	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570634692	chr22:20891293-20891294	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539211608	chr22:20891315-20891316	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs60685513	chr22:20891343-20891344	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555936126	chr22:20891353-20891354	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377582136	chr22:20891355-20891356	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191935159	chr22:20891365-20891366	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs5995779	chr22:20891366-20891367	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75227685	chr22:20891380-20891381	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571911918	chr22:20891382-20891383	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs73386128	chr22:20891482-20891483	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141012864	chr22:20891488-20891489	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201596107	chr22:20891497-20891498	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148534902	chr22:20891498-20891499	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs67604175	chr22:20891499-20891500	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs3216923	chr22:20891502-20891503	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201541352	chr22:20891504-20891505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374552341	chr22:20891507-20891508	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs367550499	chr22:20891515-20891516	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558124235	chr22:20891535-20891536	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs184016510	chr22:20891539-20891540	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4821915	chr22:20891545-20891546	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs563859659	chr22:20891565-20891566	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2269831	chr22:20891568-20891569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543115089	chr22:20891584-20891585	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553819502	chr22:20891602-20891603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6001680	chr22:20891680-20891681	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75878005	chr22:20891725-20891726	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188350104	chr22:20891726-20891727	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549593822	chr22:20891797-20891798	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569486722	chr22:20891823-20891824	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs367605320	chr22:20891834-20891835	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573806263	chr22:20891839-20891840	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2269832	chr22:20891842-20891843	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371838524	chr22:20891903-20891904	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2269833	chr22:20891928-20891929	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565675085	chr22:20891945-20891946	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573455094	chr22:20891948-20891949	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113027769	chr22:20892027-20892028	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73879397	chr22:20892073-20892074	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578214158	chr22:20892090-20892091	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537715661	chr22:20892112-20892113	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557607678	chr22:20892134-20892135	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181177911	chr22:20892161-20892162	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs73879398	chr22:20892217-20892218	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141071437	chr22:20892223-20892224	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184509175	chr22:20892246-20892247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189391765	chr22:20892271-20892272	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs150250096	chr22:20892275-20892276	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566771158	chr22:20892307-20892308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:226)

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
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	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
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	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
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Cancer	20164920	CNVD
Schizophrenia	17989066	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20864400-20913000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:20864800-20903600	Weak transcription	Fetal Brain Male	brain
3	chr22:20881400-20891800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:20883000-20904600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:20883200-20900000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:20883800-20891400	Enhancers	Placenta	Placenta
7	chr22:20884200-20892200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr22:20884400-20892600	Enhancers	Fetal Heart	heart
9	chr22:20886000-20891400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:20886000-20900200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:20886000-20906000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:20886000-20915400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:20886200-20891400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr22:20886200-20900200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:20886400-20891400	Weak transcription	Fetal Lung	lung
16	chr22:20886600-20896600	Weak transcription	Fetal Kidney	kidney
17	chr22:20887000-20891600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:20887000-20906200	Strong transcription	Fetal Intestine Small	intestine
19	chr22:20887200-20894600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:20887400-20903400	Weak transcription	Small Intestine	intestine
21	chr22:20887400-20903400	Weak transcription	Stomach Mucosa	stomach
22	chr22:20887600-20891400	Weak transcription	Hela-S3	cervix
23	chr22:20887600-20900200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:20887800-20900200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:20888000-20891600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:20888000-20901200	Strong transcription	Fetal Stomach	stomach
27	chr22:20888600-20891400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:20888600-20891400	Weak transcription	Colonic Mucosa	Colon
29	chr22:20888600-20892000	Weak transcription	NH-A	brain
30	chr22:20888600-20894000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:20888600-20897200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:20889000-20891600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:20889200-20891400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr22:20889200-20896400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:20889600-20892200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:20890000-20891400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr22:20890400-20891400	Enhancers	Pancreas	Pancrea
38	chr22:20890400-20891600	Enhancers	Left Ventricle	heart
39	chr22:20890400-20891600	Enhancers	Psoas Muscle	Psoas
40	chr22:20890400-20891600	Enhancers	Right Atrium	heart
41	chr22:20890400-20891800	Genic enhancers	Lung	lung
42	chr22:20890400-20893600	Strong transcription	Thymus	Thymus
43	chr22:20890600-20892600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr22:20890800-20891400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:20890800-20891400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:20890800-20891400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr22:20890800-20891400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr22:20890800-20891400	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr22:20890800-20891400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:20890800-20891400	Genic enhancers	Liver	Liver

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