Variant report

Variant	nsv1060055
Chromosome Location	chr22:21403912-21465835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1078)
CpG islands
(count:0)
Chromatin interactive
region (count:92)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21411015-21411440	K562	blood:	n/a	n/a
2	ARID3A	chr22:21456951-21457433	K562	blood:	n/a	n/a
3	ARID3A	chr22:21462458-21463637	K562	blood:	n/a	n/a
4	ARID3A	chr22:21452454-21452781	K562	blood:	n/a	n/a
5	ARID3A	chr22:21418438-21418520	K562	blood:	n/a	n/a
6	ATF1	chr22:21456948-21457439	K562	blood:	n/a	n/a
7	ATF1	chr22:21452396-21452913	K562	blood:	n/a	n/a
8	ATF1	chr22:21410966-21411384	K562	blood:	n/a	n/a
9	ATF1	chr22:21459817-21459848	K562	blood:	n/a	n/a
10	ATF1	chr22:21447950-21448376	K562	blood:	n/a	n/a
11	ATF1	chr22:21428920-21428954	K562	blood:	n/a	n/a
12	ATF1	chr22:21454708-21455083	K562	blood:	n/a	n/a
13	ATF2	chr22:21457002-21457536	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr22:21456969-21457507	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr22:21456997-21457475	GM12878	blood:	n/a	n/a
16	ATF2	chr22:21457055-21457365	GM12878	blood:	n/a	n/a
17	ATF3	chr22:21456887-21457665	K562	blood:	n/a	n/a
18	ATF3	chr22:21456845-21457542	K562	blood:	n/a	n/a
19	ATF3	chr22:21428452-21429007	K562	blood:	n/a	n/a
20	BACH1	chr22:21462599-21463625	K562	blood:	n/a	n/a
21	BACH1	chr22:21454361-21454398	K562	blood:	n/a	n/a
22	BACH1	chr22:21457038-21457521	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr22:21462948-21463323	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr22:21457063-21457536	K562	blood:	n/a	n/a
25	BCLAF1	chr22:21457085-21457352	GM12878	blood:	n/a	n/a
26	BHLHE40	chr22:21410992-21411475	K562	blood:	n/a	n/a
27	BHLHE40	chr22:21452444-21452669	K562	blood:	n/a	n/a
28	BHLHE40	chr22:21448023-21448312	K562	blood:	n/a	n/a
29	BHLHE40	chr22:21428429-21428753	K562	blood:	n/a	n/a
30	BHLHE40	chr22:21456903-21457481	K562	blood:	n/a	n/a
31	BHLHE40	chr22:21410189-21410524	K562	blood:	n/a	n/a
32	BHLHE40	chr22:21419797-21420021	K562	blood:	n/a	n/a
33	BRCA1	chr22:21457031-21457337	HepG2	liver:	n/a	n/a
34	CBX3	chr22:21452189-21452809	K562	blood:	n/a	n/a
35	CBX3	chr22:21456904-21457465	K562	blood:	n/a	n/a
36	CBX3	chr22:21409963-21411503	K562	blood:	n/a	n/a
37	CBX3	chr22:21415568-21416592	K562	blood:	n/a	n/a
38	CBX3	chr22:21426023-21426430	K562	blood:	n/a	n/a
39	CBX3	chr22:21426085-21426389	K562	blood:	n/a	n/a
40	CBX3	chr22:21456796-21457642	K562	blood:	n/a	n/a
41	CBX3	chr22:21452219-21452829	K562	blood:	n/a	n/a
42	CBX3	chr22:21415748-21416515	K562	blood:	n/a	n/a
43	CCNT2	chr22:21448114-21448229	K562	blood:	n/a	n/a
44	CCNT2	chr22:21457069-21457499	K562	blood:	n/a	n/a
45	CCNT2	chr22:21463069-21463100	K562	blood:	n/a	n/a
46	CEBPB	chr22:21419310-21419519	HepG2	liver:	n/a	n/a
47	CEBPB	chr22:21448007-21448208	K562	blood:	n/a	n/a
48	CEBPB	chr22:21444282-21444574	A549	lung:	n/a	n/a
49	CEBPB	chr22:21447263-21447283	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr22:21460358-21460613	HepG2	liver:	n/a	chr22:21460477-21460488

No data

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:21396604..21399068-chr22:21403043..21405171,2	K562	blood:
2	chr22:21419927..21422503-chr22:21429993..21432697,2	K562	blood:
3	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
4	chr22:21334989..21337850-chr22:21456827..21459546,2	K562	blood:
5	chr22:21431385..21433960-chr22:21448312..21450719,2	MCF-7	breast:
6	chr22:21335461..21338155-chr22:21412915..21415720,2	K562	blood:
7	chr22:21419634..21422503-chr22:21431197..21433182,2	K562	blood:
8	chr22:21400119..21401864-chr22:21403622..21405317,2	K562	blood:
9	chr22:21355019..21358979-chr22:21433564..21435999,3	K562	blood:
10	chr22:21422680..21423363-chr22:21457215..21458053,2	MCF-7	breast:
11	chr22:21408863..21410515-chr22:21423265..21425349,2	K562	blood:
12	chr22:21408863..21410515-chr22:21423265..21425349,2	K562	blood:
13	chr22:21442941..21445162-chr22:21452590..21455058,2	K562	blood:
14	chr22:21417504..21419163-chr22:21428378..21429948,2	K562	blood:
15	chr22:21241582..21242506-chr22:21424453..21425293,5	MCF-7	breast:
16	chr22:21408171..21411191-chr22:21423265..21425738,3	K562	blood:
17	chr22:21442941..21445162-chr22:21452590..21455058,2	K562	blood:
18	chr22:21270917..21271772-chr22:21424430..21425484,4	MCF-7	breast:
19	chr22:21355602..21358079-chr22:21461383..21463245,2	MCF-7	breast:
20	chr22:21450259..21452150-chr22:21453266..21455046,2	K562	blood:
21	chr22:21451265..21452805-chr22:21457465..21459683,2	K562	blood:
22	chr22:21448752..21453745-chr22:21453926..21457234,4	MCF-7	breast:
23	chr22:21351319..21353996-chr22:21427674..21429707,2	K562	blood:
24	chr22:21424579..21427045-chr22:21431439..21434141,2	K562	blood:
25	chr22:21424579..21427045-chr22:21431439..21434141,2	K562	blood:
26	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
27	chr22:21348532..21350685-chr22:21453924..21456734,2	K562	blood:
28	chr22:21418741..21421037-chr22:21422262..21425154,3	K562	blood:
29	chr22:21333668..21339906-chr22:21442541..21446559,5	K562	blood:
30	chr22:21450259..21452150-chr22:21453266..21455046,2	K562	blood:
31	chr22:21450378..21453014-chr22:21461236..21463100,2	K562	blood:
32	chr22:21399941..21401544-chr22:21422465..21424346,2	K562	blood:
33	chr22:21427520..21431698-chr22:21432126..21436010,5	K562	blood:
34	chr22:21447333..21449666-chr22:21453179..21455036,3	K562	blood:
35	chr22:21369240..21371713-chr22:21452349..21454093,2	K562	blood:
36	chr22:21321706..21322599-chr22:21456736..21457719,2	K562	blood:
37	chr22:21356384..21358791-chr22:21460678..21463188,2	K562	blood:
38	chr22:21370645..21373492-chr22:21426100..21428650,2	K562	blood:
39	chr22:21378169..21379716-chr22:21426585..21429192,2	K562	blood:
40	chr22:21427684..21429185-chr22:21441079..21443400,2	K562	blood:
41	chr22:21032091..21033597-chr22:21414916..21416423,2	K562	blood:
42	chr22:21443711..21446922-chr22:21450828..21455317,4	K562	blood:
43	chr22:21422859..21427453-chr22:21428543..21432939,6	K562	blood:
44	chr22:21445053..21447572-chr22:21455705..21457230,2	K562	blood:
45	chr22:21270849..21272651-chr22:21455826..21458172,2	MCF-7	breast:
46	chr22:21448752..21453745-chr22:21453926..21457234,4	MCF-7	breast:
47	chr22:21451265..21452805-chr22:21457465..21459683,2	K562	blood:
48	chr22:21367571..21370293-chr22:21455185..21457274,3	K562	blood:
49	chr22:21354959..21358124-chr22:21432393..21434030,3	MCF-7	breast:
50	chr22:21241608..21242500-chr22:21424508..21425440,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RX6-1	chr22:21411225-21411489	XLOC_014162
2	lnc-P2RX6-1	chr22:21416013-21416630	XLOC_014162
3	lnc-P2RX6-1	chr22:21416013-21416553	XLOC_014162
4	lnc-P2RX6-1	chr22:21410800-21411489	XLOC_014162
5	lnc-P2RX6-1	chr22:21414662-21414866	XLOC_014162
6	lnc-P2RX6-1	chr22:21414662-21414866	XLOC_014162
7	lnc-P2RX6-1	chr22:21410819-21411489	NONHSAT147203
8	lnc-P2RX6-1	chr22:21408238-21408286	XLOC_014162
9	lnc-P2RX6-1	chr22:21414662-21414686	NONHSAT147203
10	lnc-P2RX6-1	chr22:21409387-21409465	XLOC_014162

No data

Variant related genes	Relation type
BCRP2	TF binding region
TUBA3GP	TF binding region
P2RX6P	TF binding region
ENSG00000187905	TF binding region
ENSG00000187905	chromatin interactions
ENSG00000169668	chromatin interactions
ENSG00000249680	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000099957	chromatin interactions
ENSG00000099942	chromatin interactions
ENSG00000272829	chromatin interactions
ENSG00000161149	chromatin interactions
ENSG00000206145	chromatin interactions
ENSG00000183773	chromatin interactions
ENSG00000184436	chromatin interactions
ARHGEF2	miRNA target sites
ARHGEF3	miRNA target sites
ARHGEF18	miRNA target sites

Extended variants
information (count: 2713 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:2713 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373069	chr22:21403912-21403913	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545772457	chr22:21403925-21403926	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376215627	chr22:21403937-21403938	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs450741	chr22:21403971-21403972	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs531826287	chr22:21403977-21403978	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs140270632	chr22:21403994-21403995	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs386819847	chr22:21404000-21404001	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373432	chr22:21404009-21404010	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374503650	chr22:21404025-21404026	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs151159520	chr22:21404048-21404049	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375921645	chr22:21404086-21404087	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571136071	chr22:21404100-21404101	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116920943	chr22:21404110-21404111	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs9625422	chr22:21404113-21404114	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190151960	chr22:21404114-21404115	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150336663	chr22:21404118-21404119	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145341492	chr22:21404124-21404125	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565835125	chr22:21404138-21404139	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534532163	chr22:21404209-21404210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557563130	chr22:21404228-21404229	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577502965	chr22:21404230-21404231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543356595	chr22:21404274-21404275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371754800	chr22:21404278-21404279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141368732	chr22:21404290-21404291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs576366681	chr22:21404297-21404298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542273452	chr22:21404322-21404323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562062287	chr22:21404364-21404365	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs396659	chr22:21404365-21404366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113600727	chr22:21404369-21404370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs191823066	chr22:21404389-21404390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564709724	chr22:21404415-21404416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533664508	chr22:21404472-21404473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550498800	chr22:21404473-21404474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563256481	chr22:21404483-21404484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12158863	chr22:21404500-21404501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183857709	chr22:21404509-21404510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369545001	chr22:21404514-21404515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534449129	chr22:21404515-21404516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551153945	chr22:21404517-21404518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs571111204	chr22:21404518-21404519	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188242850	chr22:21404537-21404538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556988534	chr22:21404545-21404546	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377744501	chr22:21404546-21404547	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528312896	chr22:21404572-21404573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs71314760	chr22:21404584-21404585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs180684895	chr22:21404590-21404591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs370865923	chr22:21404607-21404608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111977849	chr22:21404623-21404624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545284015	chr22:21404645-21404646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535458832	chr22:21404687-21404688	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:230)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21400400-21405200	Weak transcription	GM12878-XiMat	blood
2	chr22:21400600-21405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:21400600-21405800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:21400600-21405800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:21400600-21406000	Weak transcription	NHEK	skin
6	chr22:21400800-21405800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:21400800-21405800	Weak transcription	HSMM	muscle
8	chr22:21400800-21406000	Weak transcription	NH-A	brain
9	chr22:21400800-21410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:21403000-21404200	Strong transcription	Right Atrium	heart
11	chr22:21403800-21407400	Enhancers	Placenta	Placenta
12	chr22:21404200-21406200	Weak transcription	Right Atrium	heart
13	chr22:21405000-21406000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:21405200-21406400	Enhancers	Fetal Thymus	thymus
15	chr22:21405200-21406800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr22:21405200-21406800	Enhancers	GM12878-XiMat	blood
17	chr22:21405400-21406800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:21405400-21406800	Bivalent Enhancer	K562	blood
19	chr22:21405400-21407000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr22:21405400-21407000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr22:21405600-21405800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:21405600-21406800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:21405600-21407000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr22:21405600-21407400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:21405800-21406200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:21405800-21406200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr22:21405800-21406200	Enhancers	HSMM	muscle
28	chr22:21405800-21406400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:21405800-21406600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:21405800-21406600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr22:21405800-21406800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:21405800-21406800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr22:21405800-21406800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:21405800-21407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:21405800-21407200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:21406000-21406200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr22:21406000-21406200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr22:21406000-21406200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:21406000-21406200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:21406000-21406200	Enhancers	NHLF	lung
41	chr22:21406000-21406400	Enhancers	Primary T cells from cord blood	blood
42	chr22:21406000-21406600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:21406000-21406600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:21406000-21406600	Enhancers	NHEK	skin
45	chr22:21406000-21406800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:21406000-21406800	Enhancers	NH-A	brain
47	chr22:21406200-21406800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr22:21406200-21409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:21406200-21410000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:21406200-21411800	Strong transcription	Right Atrium	heart

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