Variant report

Variant	nsv1057478
Chromosome Location	chr22:23251602-23263262
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	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
2	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
3	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
4	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
5	ATF1	chr22:23262737-23263489	K562	blood:	n/a	n/a
6	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
7	BACH1	chr22:23259715-23259720	K562	blood:	n/a	n/a
8	BACH1	chr22:23261304-23261342	K562	blood:	n/a	n/a
9	BHLHE40	chr22:23258770-23259136	HepG2	liver:	n/a	n/a
10	BHLHE40	chr22:23263078-23263135	K562	blood:	n/a	n/a
11	BRCA1	chr22:23256178-23256216	GM12878	blood:	n/a	n/a
12	CHD2	chr22:23256176-23256691	GM12878	blood:	n/a	n/a
13	CHD2	chr22:23261248-23261265	K562	blood:	n/a	n/a
14	CHD2	chr22:23255821-23255822	K562	blood:	n/a	n/a
15	CTCF	chr22:23257750-23257789	GM10266	blood:	n/a	n/a
16	CTCF	chr22:23256060-23256210	HEK293	kidney:	n/a	n/a
17	CTCF	chr22:23256300-23256450	GM12873	blood:	n/a	chr22:23256342-23256351
18	CTCF	chr22:23256300-23256450	GM12871	blood:	n/a	chr22:23256342-23256351
19	CTCF	chr22:23261657-23261712	Lung_OC	lung:	n/a	n/a
20	CTCF	chr22:23261770-23261834	Lung_OC	lung:	n/a	n/a
21	CTCF	chr22:23261745-23261754	Lung_OC	lung:	n/a	n/a
22	EBF1	chr22:23256091-23256450	GM12878	blood:	n/a	chr22:23256340-23256351
23	EBF1	chr22:23256192-23256420	GM12878	blood:	n/a	chr22:23256340-23256351
24	EBF1	chr22:23256235-23256434	GM12878	blood:	n/a	chr22:23256340-23256351
25	ELF1	chr22:23255792-23256499	GM12878	blood:	n/a	n/a
26	ELF1	chr22:23253378-23253854	K562	blood:	n/a	chr22:23253617-23253628 chr22:23253616-23253629
27	GTF2F1	chr22:23253986-23254108	K562	blood:	n/a	n/a
28	GTF2F1	chr22:23253140-23253180	K562	blood:	n/a	n/a
29	HNF4A	chr22:23258788-23259019	HepG2	liver:	n/a	chr22:23258963-23258978 chr22:23258963-23258978 chr22:23258879-23258892
30	HNF4A	chr22:23258732-23258962	HepG2	liver:	n/a	chr22:23258879-23258892
31	HNF4G	chr22:23258692-23259032	HepG2	liver:	n/a	chr22:23258877-23258892 chr22:23258963-23258978 chr22:23258963-23258978 chr22:23258879-23258892
32	HNF4G	chr22:23258719-23259046	HepG2	liver:	n/a	chr22:23258877-23258892 chr22:23258963-23258978 chr22:23258963-23258978 chr22:23258879-23258892
33	JUND	chr22:23257555-23257558	K562	blood:	n/a	n/a
34	MAX	chr22:23253531-23253991	K562	blood:	n/a	chr22:23253787-23253798 chr22:23253788-23253797 chr22:23253788-23253797 chr22:23253787-23253798 chr22:23253789-23253796 chr22:23253788-23253798
35	MAX	chr22:23258836-23259123	HepG2	liver:	n/a	n/a
36	MAX	chr22:23253739-23253748	K562	blood:	n/a	n/a
37	MAX	chr22:23255131-23255331	H1-hESC	embryonic stem cell:	n/a	chr22:23255178-23255191 chr22:23255180-23255189 chr22:23255179-23255190 chr22:23255178-23255191
38	MAX	chr22:23253631-23253870	K562	blood:	n/a	chr22:23253787-23253798 chr22:23253788-23253797 chr22:23253788-23253797 chr22:23253787-23253798 chr22:23253789-23253796 chr22:23253788-23253798
39	MAX	chr22:23258909-23259209	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAZ	chr22:23258743-23259023	HepG2	liver:	n/a	n/a
41	MTA3	chr22:23256095-23256724	GM12878	blood:	n/a	n/a
42	MTA3	chr22:23252205-23252676	GM12878	blood:	n/a	n/a
43	MTA3	chr22:23252818-23253337	GM12878	blood:	n/a	n/a
44	MXI1	chr22:23258866-23259191	HepG2	liver:	n/a	n/a
45	MYC	chr22:23256363-23256377	NB4	blood:	n/a	n/a
46	NRF1	chr22:23262316-23262326	K562	blood:	n/a	n/a
47	PAX5	chr22:23253079-23253306	GM12878	blood:	n/a	n/a
48	PAX5	chr22:23261588-23262126	GM12878	blood:	n/a	n/a
49	PAX5	chr22:23261821-23262069	GM12878	blood:	n/a	n/a
50	PAX5	chr22:23252981-23253384	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:23236796..23239209-chr22:23258890..23261514,2	K562	blood:
2	chr22:23261117..23263641-chr22:23264707..23267231,3	K562	blood:
3	chr22:23246871..23249530-chr22:23253643..23256082,2	K562	blood:
4	chr22:23251853..23252558-chr22:23295506..23296354,3	MCF-7	breast:
5	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
6	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
7	chr22:23230851..23232657-chr22:23258084..23260097,2	K562	blood:
8	chr22:23152432..23153103-chr22:23254207..23254852,2	K562	blood:
9	chr22:23258107..23260177-chr22:23268082..23270661,2	K562	blood:
10	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:
11	chr22:23234328..23239223-chr22:23249114..23253993,6	K562	blood:
12	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
2	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
3	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834
4	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835

Variant related genes	Relation type
IGLJ5	TF binding region
IGLC7	TF binding region
IGLJ7	TF binding region
IGLJ6	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
IGLC5	TF binding region
IGLC6	TF binding region
ENSG00000211678	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000211685	chromatin interactions

Extended variants
information (count: 597 )
Associated
traits (count: 215 )

Variant overlapped rSNPs/rCNVs (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6003387	chr22:23251602-23251603	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142556863	chr22:23251624-23251625	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs561137953	chr22:23251693-23251694	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs192116776	chr22:23251701-23251702	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs184373663	chr22:23251733-23251734	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs529122165	chr22:23251734-23251735	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs544078137	chr22:23251750-23251751	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs187185842	chr22:23251753-23251754	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs532285949	chr22:23251759-23251760	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs551724954	chr22:23251785-23251786	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs568859121	chr22:23251789-23251790	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs5759524	chr22:23251842-23251843	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs464805	chr22:23251857-23251858	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567747151	chr22:23251862-23251863	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs459079	chr22:23251940-23251941	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192856607	chr22:23251958-23251959	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs573536353	chr22:23251959-23251960	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs565760032	chr22:23252026-23252027	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs184412337	chr22:23252064-23252065	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs116167537	chr22:23252079-23252080	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs145988668	chr22:23252219-23252220	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs376752428	chr22:23252231-23252232	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs546907308	chr22:23252234-23252235	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs139928825	chr22:23252245-23252246	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs561480602	chr22:23252270-23252271	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs141823132	chr22:23252278-23252279	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs540000593	chr22:23252310-23252311	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs559933543	chr22:23252347-23252348	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs551862974	chr22:23252363-23252364	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs532249196	chr22:23252386-23252387	Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs527412023	chr22:23252442-23252443	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs150806132	chr22:23252532-23252533	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs571690905	chr22:23252536-23252537	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs75582256	chr22:23252545-23252546	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs531376486	chr22:23252546-23252547	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs547975702	chr22:23252551-23252552	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs361658	chr22:23252556-23252557	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs568100492	chr22:23252562-23252563	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs533881944	chr22:23252571-23252572	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs537551654	chr22:23252584-23252585	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs547181273	chr22:23252630-23252631	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs566688063	chr22:23252631-23252632	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs567091020	chr22:23252654-23252655	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs539325002	chr22:23252669-23252670	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs368393818	chr22:23252676-23252677	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs371228681	chr22:23252699-23252700	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs376274726	chr22:23252735-23252736	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs575547598	chr22:23252767-23252768	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs367625329	chr22:23252775-23252776	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs371711039	chr22:23252792-23252793	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:215)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	20639864	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23247600-23251800	Weak transcription	Dnd41	blood
2	chr22:23249800-23258400	Enhancers	Primary B cells from peripheral blood	blood
3	chr22:23249800-23270800	Strong transcription	Right Atrium	heart
4	chr22:23250600-23251800	Weak transcription	Primary B cells from cord blood	blood
5	chr22:23250800-23251800	Weak transcription	GM12878-XiMat	blood
6	chr22:23251800-23254000	Enhancers	Dnd41	blood
7	chr22:23251800-23254000	Enhancers	GM12878-XiMat	blood
8	chr22:23251800-23256400	Enhancers	Primary B cells from cord blood	blood
9	chr22:23252000-23252400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr22:23252200-23253000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr22:23252200-23253000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr22:23252400-23252600	Enhancers	Fetal Thymus	thymus
13	chr22:23252400-23252600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr22:23252400-23256400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr22:23253000-23253200	Enhancers	Spleen	Spleen
16	chr22:23253000-23253600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:23253000-23256200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr22:23253200-23253800	Weak transcription	Spleen	Spleen
19	chr22:23253600-23253800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr22:23253600-23253800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:23253800-23254000	Enhancers	Spleen	Spleen
22	chr22:23253800-23255800	Weak transcription	Fetal Thymus	thymus
23	chr22:23253800-23256000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:23254000-23255200	Weak transcription	Dnd41	blood
25	chr22:23254000-23256000	Weak transcription	GM12878-XiMat	blood
26	chr22:23254000-23268800	Weak transcription	Spleen	Spleen
27	chr22:23254800-23255000	Enhancers	HSMMtube	muscle
28	chr22:23255200-23256000	Enhancers	Dnd41	blood
29	chr22:23255200-23256400	Weak transcription	HSMMtube	muscle
30	chr22:23255200-23257800	Enhancers	Fetal Muscle Leg	muscle
31	chr22:23255400-23259400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:23255800-23256800	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:23255800-23256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:23255800-23257200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr22:23255800-23257400	Enhancers	Fetal Thymus	thymus
36	chr22:23256000-23256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:23256000-23257000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:23256000-23257200	Flanking Active TSS	Dnd41	blood
39	chr22:23256000-23257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr22:23256000-23257800	Enhancers	GM12878-XiMat	blood
41	chr22:23256200-23256800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr22:23256400-23256800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr22:23256400-23256800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr22:23256400-23257200	Enhancers	HSMMtube	muscle
45	chr22:23256800-23257800	Enhancers	Primary B cells from cord blood	blood
46	chr22:23257000-23257200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr22:23257200-23257600	Enhancers	Dnd41	blood
48	chr22:23257200-23257800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr22:23257200-23258200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:23257200-23268000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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