Variant report

Variant	nsv1058580
Chromosome Location	chr22:21809185-21917311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2161)
CpG islands
(count:796)
Chromatin interactive
region (count:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2161 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21910418-21910628	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:21811453-21812088	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:21910246-21910718	K562	blood:	n/a	n/a
4	ATF1	chr22:21822456-21822596	K562	blood:	n/a	n/a
5	ATF1	chr22:21910267-21910662	K562	blood:	n/a	n/a
6	ATF3	chr22:21910129-21910721	K562	blood:	n/a	n/a
7	ATF3	chr22:21866127-21866289	K562	blood:	n/a	n/a
8	ATF3	chr22:21910162-21910876	K562	blood:	n/a	n/a
9	BACH1	chr22:21810600-21810850	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr22:21910262-21910699	K562	blood:	n/a	n/a
11	BATF	chr22:21822372-21822581	GM12878	blood:	n/a	n/a
12	BATF	chr22:21871643-21871836	GM12878	blood:	n/a	n/a
13	BATF	chr22:21822965-21823191	GM12878	blood:	n/a	n/a
14	BATF	chr22:21888942-21889159	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:21888998-21889271	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:21868416-21868688	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:21904654-21904960	GM12878	blood:	n/a	n/a
18	BCL3	chr22:21811292-21811869	A549	lung:	n/a	n/a
19	BCL3	chr22:21910210-21910678	A549	lung:	n/a	n/a
20	BHLHE40	chr22:21811288-21811938	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:21872293-21872552	HepG2	liver:	n/a	n/a
22	BHLHE40	chr22:21889022-21889308	HepG2	liver:	n/a	n/a
23	BHLHE40	chr22:21811661-21811706	K562	blood:	n/a	n/a
24	BHLHE40	chr22:21904568-21904918	HepG2	liver:	n/a	n/a
25	BHLHE40	chr22:21910291-21910722	K562	blood:	n/a	n/a
26	BHLHE40	chr22:21864628-21865020	HepG2	liver:	n/a	chr22:21864696-21864712
27	BHLHE40	chr22:21880932-21881265	HepG2	liver:	n/a	n/a
28	BHLHE40	chr22:21822115-21822324	HepG2	liver:	n/a	n/a
29	BRCA1	chr22:21811623-21811821	HepG2	liver:	n/a	n/a
30	CBX3	chr22:21871657-21872930	K562	blood:	n/a	n/a
31	CBX3	chr22:21850651-21851342	K562	blood:	n/a	n/a
32	CBX3	chr22:21894438-21895066	K562	blood:	n/a	n/a
33	CBX3	chr22:21888819-21889586	K562	blood:	n/a	n/a
34	CBX3	chr22:21898573-21899810	K562	blood:	n/a	n/a
35	CBX3	chr22:21864312-21865352	K562	blood:	n/a	n/a
36	CBX3	chr22:21867672-21871343	K562	blood:	n/a	n/a
37	CBX3	chr22:21821351-21823531	K562	blood:	n/a	n/a
38	CBX3	chr22:21885463-21886801	K562	blood:	n/a	n/a
39	CBX3	chr22:21903838-21905213	K562	blood:	n/a	n/a
40	CBX3	chr22:21910176-21910813	HCT-116	colon:	n/a	n/a
41	CBX3	chr22:21894581-21895053	K562	blood:	n/a	n/a
42	CBX3	chr22:21910069-21911201	K562	blood:	n/a	n/a
43	CCNT2	chr22:21910288-21910581	K562	blood:	n/a	n/a
44	CCNT2	chr22:21809989-21810183	K562	blood:	n/a	n/a
45	CEBPB	chr22:21906116-21906664	K562	blood:	n/a	n/a
46	CEBPB	chr22:21885591-21886387	K562	blood:	n/a	n/a
47	CEBPB	chr22:21811514-21811774	HepG2	liver:	n/a	n/a
48	CEBPB	chr22:21862800-21862954	K562	blood:	n/a	n/a
49	CEBPB	chr22:21809239-21809313	K562	blood:	n/a	n/a
50	CEBPB	chr22:21811121-21811836	A549	lung:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21871914-21871964	T-47D	breast:	n/a
2	chr22:21871920-21871970	IMR90	lung:	fetal
3	chr22:21822779-21822829	NB4	blood:	n/a
4	chr22:21871914-21871964	T-47D	breast:	n/a
5	chr22:21871920-21871970	IMR90	lung:	fetal
6	chr22:21822779-21822829	NB4	blood:	n/a
7	chr22:21822289-21822339	HRCEpiC	kidney:	n/a
8	chr22:21823558-21823608	NB4	blood:	n/a
9	chr22:21820215-21820265	HPAEpiC	pulmonary alveolar:	n/a
10	chr22:21867049-21867099	A549	lung:	n/a
11	chr22:21823558-21823608	T-47D	breast:	n/a
12	chr22:21871920-21871970	AG09309	skin:	n/a
13	chr22:21822289-21822339	HIPEpiC	eye:	n/a
14	chr22:21822289-21822339	HEEpiC	esophagus:	n/a
15	chr22:21822289-21822339	MCF10A-Er-Src	breast:	n/a
16	chr22:21820215-21820265	ECC-1	luminal epithelium:	n/a
17	chr22:21871914-21871964	NH-A	brain:	n/a
18	chr22:21825384-21825434	HRPEpiC	eye:	n/a
19	chr22:21823558-21823608	GM19239	blood:	n/a
20	chr22:21821976-21822026	HRPEpiC	eye:	n/a
21	chr22:21817930-21817980	AG09309	skin:	n/a
22	chr22:21867049-21867099	H1-hESC	embryonic stem cell:	embryo
23	chr22:21823558-21823608	NH-A	brain:	n/a
24	chr22:21820215-21820265	NHDF-neo	bronchial:	n/a
25	chr22:21822779-21822829	ProgFib	skin:	n/a
26	chr22:21867049-21867099	NT2-D1	testis:	n/a
27	chr22:21817930-21817980	K562	blood:	n/a
28	chr22:21822289-21822339	HMEC	breast:	n/a
29	chr22:21871564-21871614	HCM	heart:	n/a
30	chr22:21825384-21825434	BJ	skin:	n/a
31	chr22:21823558-21823608	HRPEpiC	eye:	n/a
32	chr22:21821976-21822026	GM12892	blood:	n/a
33	chr22:21871564-21871614	A549	lung:	n/a
34	chr22:21906477-21906527	HCPEpiC	choroid plexus:	n/a
35	chr22:21822779-21822829	HPAEpiC	pulmonary alveolar:	n/a
36	chr22:21821976-21822026	NHBE	bronchial:	n/a
37	chr22:21822289-21822339	T-47D	breast:	n/a
38	chr22:21820215-21820265	AG10803	skin:	n/a
39	chr22:21823558-21823608	CMK	blood:	n/a
40	chr22:21817930-21817980	HCF	heart:	n/a
41	chr22:21822289-21822339	HCPEpiC	choroid plexus:	n/a
42	chr22:21825384-21825434	LNCaP	prostate:	n/a
43	chr22:21825384-21825434	ProgFib	skin:	n/a
44	chr22:21817930-21817980	AG04450	lung:	fetal
45	chr22:21871914-21871964	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:21822779-21822829	A549	lung:	n/a
47	chr22:21825384-21825434	HAEpiC	amniotic membrane:	n/a
48	chr22:21823558-21823608	PANC-1	pancreas:	n/a
49	chr22:21871564-21871614	Hepatocyte	liver:	n/a
50	chr22:21822289-21822339	H1-hESC	embryonic stem cell:	embryo

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:
2	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
3	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
4	chr22:21807608..21809744-chr22:21982806..21985295,2	K562	blood:
5	chr22:21910242..21911830-chr22:21925513..21928236,2	K562	blood:
6	chr22:21808392..21810710-chr22:21921341..21923915,2	K562	blood:
7	chr22:21821085..21824065-chr22:21983565..21985249,2	K562	blood:
8	chr22:21910454..21912029-chr22:22004763..22007007,2	MCF-7	breast:
9	chr22:21910278..21913507-chr22:21994549..21997856,3	K562	blood:
10	chr22:21908736..21910357-chr22:21980107..21982427,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIC2-1	chr22:21820783-21821265	ENSG00000206140
2	lnc-RIMBP3C-2	chr22:21846265-21846383	NONHSAT083686
3	lnc-RIMBP3C-2	chr22:21868423-21868512	NONHSAT083686
4	lnc-RIMBP3C-1	chr22:21899633-21899933	NONHSAT083690

No data

Variant related genes	Relation type
RN7SKP221	TF binding region
ENSG00000252799	TF binding region
UBE2L3	TF binding region
ENSG00000252143	TF binding region
TMEM191C	TF binding region
ENSG00000252605	TF binding region
RIMBP3C	TF binding region
PI4KAP2	TF binding region
RN7SKP221	CpG island
ENSG00000252799	CpG island
UBE2L3	CpG island
ENSG00000252143	CpG island
TMEM191C	CpG island
ENSG00000252605	CpG island
RIMBP3C	CpG island
PI4KAP2	CpG island
ENSG00000128228	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000273342	chromatin interactions
ENSG00000185651	chromatin interactions
ENSG00000161179	chromatin interactions

Extended variants
information (count: 1260 )
Associated
traits (count: 229 )

Variant overlapped rSNPs/rCNVs (count:1260 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs463426	chr22:21809185-21809186	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529150301	chr22:21809191-21809192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182204172	chr22:21809241-21809242	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568439995	chr22:21809267-21809268	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187998996	chr22:21809308-21809309	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562661308	chr22:21809309-21809310	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112137922	chr22:21809397-21809398	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs455546	chr22:21809438-21809439	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369294051	chr22:21809442-21809443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572921578	chr22:21809500-21809501	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556690905	chr22:21809501-21809502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545243449	chr22:21809511-21809512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184687826	chr22:21809588-21809589	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542494300	chr22:21809643-21809644	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187379716	chr22:21809696-21809697	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571708042	chr22:21809726-21809727	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139651413	chr22:21809733-21809734	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559120805	chr22:21809751-21809752	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575808110	chr22:21809755-21809756	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372727039	chr22:21809759-21809760	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560221947	chr22:21809777-21809778	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35478756	chr22:21809781-21809782	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375799403	chr22:21809812-21809813	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370201159	chr22:21809829-21809830	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563750376	chr22:21809841-21809842	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377187946	chr22:21809846-21809847	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192918907	chr22:21809848-21809849	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563480357	chr22:21809849-21809850	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529102419	chr22:21809858-21809859	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184633257	chr22:21809859-21809860	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566019801	chr22:21809881-21809882	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528403575	chr22:21809905-21809906	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547766341	chr22:21809922-21809923	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145268035	chr22:21809975-21809976	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539889602	chr22:21809983-21809984	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550040602	chr22:21809998-21809999	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570209717	chr22:21810039-21810040	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151003820	chr22:21810052-21810053	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555635057	chr22:21810102-21810103	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572365365	chr22:21810126-21810127	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs5997973	chr22:21810137-21810138	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184743270	chr22:21810210-21810211	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs5997974	chr22:21810332-21810333	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561614246	chr22:21810426-21810427	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530110441	chr22:21810427-21810428	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189785796	chr22:21810450-21810451	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540667577	chr22:21810468-21810469	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573770130	chr22:21810471-21810472	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542802667	chr22:21810490-21810491	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374377367	chr22:21810501-21810502	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:229)

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
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
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
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
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cognitive impairment	21505072	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21801000-21809600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:21801000-21809600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:21801000-21809600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:21801200-21810800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:21801400-21809600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:21801400-21809600	Weak transcription	Liver	Liver
7	chr22:21801400-21810400	Weak transcription	Left Ventricle	heart
8	chr22:21801600-21809600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:21801600-21810000	Weak transcription	Gastric	stomach
10	chr22:21801600-21811800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:21801800-21809600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:21802200-21810800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:21802200-21812000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:21802400-21810600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:21802400-21811800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:21802400-21822400	Weak transcription	Lung	lung
17	chr22:21802600-21810600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:21802600-21810800	Weak transcription	Esophagus	oesophagus
19	chr22:21802600-21811000	Weak transcription	Primary T cells from cord blood	blood
20	chr22:21802800-21811200	Weak transcription	NHLF	lung
21	chr22:21803000-21810600	Weak transcription	HepG2	liver
22	chr22:21803400-21809800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:21803400-21810600	Weak transcription	Pancreas	Pancrea
24	chr22:21803400-21811400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:21803600-21811200	Weak transcription	Placenta	Placenta
26	chr22:21803600-21836000	Weak transcription	Fetal Intestine Large	intestine
27	chr22:21803800-21811200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr22:21804000-21809600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:21804000-21810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:21804200-21810800	Weak transcription	Right Ventricle	heart
31	chr22:21804200-21835200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:21804800-21812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr22:21805000-21809600	Weak transcription	Right Atrium	heart
34	chr22:21805000-21810200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:21805000-21810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:21805000-21810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:21805000-21811000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:21805000-21811400	Weak transcription	K562	blood
39	chr22:21805000-21811600	Weak transcription	Spleen	Spleen
40	chr22:21805000-21813000	Weak transcription	Thymus	Thymus
41	chr22:21805000-21822400	Weak transcription	Brain Germinal Matrix	brain
42	chr22:21805200-21809600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:21805200-21810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:21805200-21812600	Weak transcription	Fetal Brain Female	brain
45	chr22:21805600-21809600	Weak transcription	A549	lung
46	chr22:21806000-21811000	Weak transcription	Fetal Lung	lung
47	chr22:21806200-21809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:21806200-21809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:21806200-21809600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:21806200-21811200	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links