Variant report

Variant	nsv544611
Chromosome Location	chr22:23404534-23417836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:470)
CpG islands
(count:671)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23417805-23418528	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23414415-23414594	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23412042-23412327	K562	blood:	n/a	n/a
4	ATF1	chr22:23404605-23405065	K562	blood:	n/a	n/a
5	ATF3	chr22:23407775-23408396	K562	blood:	n/a	n/a
6	ATF3	chr22:23412538-23413179	K562	blood:	n/a	chr22:23412615-23412635
7	ATF3	chr22:23410745-23412527	K562	blood:	n/a	chr22:23412290-23412299 chr22:23412264-23412273
8	ATF3	chr22:23413341-23414197	K562	blood:	n/a	n/a
9	BACH1	chr22:23405036-23405216	K562	blood:	n/a	n/a
10	BACH1	chr22:23411960-23412460	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr22:23411158-23411174	K562	blood:	n/a	n/a
12	BACH1	chr22:23412007-23412324	K562	blood:	n/a	n/a
13	BHLHE40	chr22:23417788-23418480	HepG2	liver:	n/a	n/a
14	BHLHE40	chr22:23411634-23412526	K562	blood:	n/a	chr22:23411892-23411908 chr22:23412312-23412328
15	BHLHE40	chr22:23412734-23412776	K562	blood:	n/a	n/a
16	BHLHE40	chr22:23405744-23405912	K562	blood:	n/a	n/a
17	BHLHE40	chr22:23407832-23408094	K562	blood:	n/a	n/a
18	BHLHE40	chr22:23412225-23412668	GM12878	blood:	n/a	chr22:23412312-23412328
19	BHLHE40	chr22:23414411-23414811	K562	blood:	n/a	n/a
20	BHLHE40	chr22:23411236-23411414	K562	blood:	n/a	n/a
21	BRCA1	chr22:23416965-23416981	HepG2	liver:	n/a	n/a
22	BRCA1	chr22:23414425-23414434	HepG2	liver:	n/a	n/a
23	BRCA1	chr22:23412034-23412363	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr22:23411343-23412481	K562	blood:	n/a	n/a
25	CCNT2	chr22:23411812-23413487	K562	blood:	n/a	chr22:23412310-23412319 chr22:23413406-23413415
26	CEBPB	chr22:23411921-23412298	K562	blood:	n/a	n/a
27	CEBPB	chr22:23411906-23412369	HepG2	liver:	n/a	n/a
28	CEBPB	chr22:23417401-23417601	HepG2	liver:	n/a	n/a
29	CEBPB	chr22:23411888-23412379	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr22:23412200-23412521	HepG2	liver:	n/a	n/a
31	CEBPD	chr22:23417763-23418350	HepG2	liver:	n/a	n/a
32	CHD2	chr22:23411488-23412528	K562	blood:	n/a	chr22:23412265-23412275
33	CHD2	chr22:23416263-23416355	HepG2	liver:	n/a	n/a
34	CHD2	chr22:23413218-23413726	K562	blood:	n/a	n/a
35	CHD2	chr22:23408052-23408331	K562	blood:	n/a	n/a
36	CHD2	chr22:23411873-23412541	Hela-S3	cervix:	n/a	chr22:23412265-23412275
37	CHD2	chr22:23415988-23415999	K562	blood:	n/a	n/a
38	CHD2	chr22:23412157-23412515	H1-hESC	embryonic stem cell:	n/a	chr22:23412265-23412275
39	CHD2	chr22:23412051-23412433	HepG2	liver:	n/a	chr22:23412265-23412275
40	CHD2	chr22:23417347-23417400	HepG2	liver:	n/a	n/a
41	CHD2	chr22:23412736-23412928	K562	blood:	n/a	n/a
42	CHD2	chr22:23412062-23412510	GM12878	blood:	n/a	chr22:23412265-23412275
43	CHD2	chr22:23413813-23413954	HepG2	liver:	n/a	n/a
44	CREB1	chr22:23411877-23412605	HepG2	liver:	n/a	n/a
45	CREB1	chr22:23412131-23412791	A549	lung:	n/a	n/a
46	CTCF	chr22:23412403-23412476	GM13977	blood:	n/a	n/a
47	CTCF	chr22:23412380-23412530	GM12866	blood:	n/a	n/a
48	CTCF	chr22:23412140-23412290	HUVEC	blood vessel:	n/a	chr22:23412210-23412223
49	CTCF	chr22:23412405-23412539	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr22:23412437-23412517	H1-hESC	embryonic stem cell:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23412381-23412431	HEEpiC	esophagus:	n/a
2	chr22:23413260-23413310	AG09309	skin:	n/a
3	chr22:23412408-23412458	BJ	skin:	n/a
4	chr22:23409066-23409116	AoSMC	blood vessel:	n/a
5	chr22:23412381-23412431	GM12891	blood:	n/a
6	chr22:23413066-23413116	U87	brain:	n/a
7	chr22:23413260-23413310	Caco-2	colon:	n/a
8	chr22:23412408-23412458	NHBE	bronchial:	n/a
9	chr22:23413784-23413834	Hepatocyte	liver:	n/a
10	chr22:23412408-23412458	SK-N-SH	brain:	n/a
11	chr22:23413784-23413834	AG09319	gingival:	n/a
12	chr22:23411986-23412036	BJ	skin:	n/a
13	chr22:23412225-23412275	PFSK-1	brain:	n/a
14	chr22:23412225-23412275	Hela-S3	cervix:	n/a
15	chr22:23412381-23412431	HNPCEpiC	eye:	n/a
16	chr22:23413066-23413116	Hela-S3	cervix:	n/a
17	chr22:23412225-23412275	NH-A	brain:	n/a
18	chr22:23413066-23413116	HIPEpiC	eye:	n/a
19	chr22:23413784-23413834	PANC-1	pancreas:	n/a
20	chr22:23412408-23412458	CMK	blood:	n/a
21	chr22:23412814-23412864	HMEC	breast:	n/a
22	chr22:23412408-23412458	HEEpiC	esophagus:	n/a
23	chr22:23412408-23412458	H1-hESC	embryonic stem cell:	embryo
24	chr22:23412814-23412864	SKMC	muscle:	n/a
25	chr22:23412225-23412275	HRE	kidney:	n/a
26	chr22:23413260-23413310	CMK	blood:	n/a
27	chr22:23412814-23412864	NT2-D1	testis:	n/a
28	chr22:23411986-23412036	HCPEpiC	choroid plexus:	n/a
29	chr22:23415316-23415366	GM06990	blood:	n/a
30	chr22:23413260-23413310	GM12892	blood:	n/a
31	chr22:23409066-23409116	GM12892	blood:	n/a
32	chr22:23413260-23413310	SAEC	small airway:	n/a
33	chr22:23415915-23415965	Caco-2	colon:	n/a
34	chr22:23413260-23413310	NT2-D1	testis:	n/a
35	chr22:23412408-23412458	HAEpiC	amniotic membrane:	n/a
36	chr22:23409066-23409116	NT2-D1	testis:	n/a
37	chr22:23412225-23412275	ECC-1	luminal epithelium:	n/a
38	chr22:23412814-23412864	HCT-116	colon:	n/a
39	chr22:23413066-23413116	HCT-116	colon:	n/a
40	chr22:23413066-23413116	Caco-2	colon:	n/a
41	chr22:23411986-23412036	GM06990	blood:	n/a
42	chr22:23412225-23412275	GM19239	blood:	n/a
43	chr22:23413260-23413310	HEK293	kidney:	embryo
44	chr22:23415316-23415366	Hepatocyte	liver:	n/a
45	chr22:23415316-23415366	Hela-S3	cervix:	n/a
46	chr22:23413066-23413116	HRE	kidney:	n/a
47	chr22:23412408-23412458	HRCEpiC	kidney:	n/a
48	chr22:23415316-23415366	AG04450	lung:	fetal
49	chr22:23415316-23415366	HL-60	blood:	n/a
50	chr22:23413260-23413310	ovcar-3	ovarian:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23394863..23396598-chr22:23407531..23409388,2	K562	blood:
2	chr22:23413096..23416095-chr22:23416099..23417835,2	MCF-7	breast:
3	chr22:23385783..23387828-chr22:23407527..23409951,2	K562	blood:
4	chr22:23403929..23407317-chr22:23410514..23413721,3	MCF-7	breast:
5	chr22:23411950..23413518-chr22:23417233..23418775,2	MCF-7	breast:
6	chr22:23355380..23358360-chr22:23403183..23404743,2	K562	blood:
7	chr22:23414964..23416683-chr22:23421843..23423619,2	MCF-7	breast:
8	chr22:23297797..23298794-chr22:23403996..23404804,2	K562	blood:
9	chr22:23416844..23419763-chr22:23421537..23423380,2	MCF-7	breast:
10	chr22:23410484..23412785-chr22:23485960..23488893,2	K562	blood:
11	chr22:23315568..23317235-chr22:23404346..23406388,2	K562	blood:
12	chr22:23411375..23413092-chr22:23413561..23415479,2	MCF-7	breast:
13	chr22:23413096..23416095-chr22:23416099..23417835,2	MCF-7	breast:
14	chr22:23374639..23377094-chr22:23403391..23405096,2	K562	blood:
15	chr22:23408872..23410442-chr22:23410645..23412987,2	MCF-7	breast:
16	chr22:23384451..23387159-chr22:23405089..23407369,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB36-1	chr22:23412760-23412941	NONHSAT083846

No data

Variant related genes	Relation type
GNAZ	TF binding region
GNAZ	CpG island
ENSG00000128266	chromatin interactions
ENSG00000100218	chromatin interactions
ENSG00000100228	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 208 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561116186	chr22:23404555-23404556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185049241	chr22:23404583-23404584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546728748	chr22:23404603-23404604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566692646	chr22:23404642-23404643	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191077928	chr22:23404683-23404684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12157346	chr22:23404696-23404697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552388665	chr22:23404807-23404808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569206735	chr22:23404861-23404862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554591269	chr22:23404901-23404902	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183263939	chr22:23404906-23404907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533889702	chr22:23404916-23404917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35669960	chr22:23404958-23404959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553423657	chr22:23404964-23404965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576514625	chr22:23404967-23404968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75383998	chr22:23404968-23404969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142688626	chr22:23404997-23404998	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575572390	chr22:23405014-23405015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76816977	chr22:23405088-23405089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35223993	chr22:23405102-23405103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561336857	chr22:23405205-23405206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34370216	chr22:23405236-23405237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140494229	chr22:23405237-23405238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574711767	chr22:23405243-23405244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368018540	chr22:23405265-23405266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188899885	chr22:23405293-23405294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374269756	chr22:23405334-23405335	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9624017	chr22:23405417-23405418	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532632417	chr22:23405468-23405469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150997837	chr22:23405474-23405475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191660378	chr22:23405493-23405494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11703666	chr22:23405500-23405501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183564739	chr22:23405523-23405524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568071788	chr22:23405528-23405529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528528344	chr22:23405541-23405542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546966153	chr22:23405556-23405557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142288802	chr22:23405573-23405574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539137984	chr22:23405675-23405676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548164448	chr22:23405722-23405723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575698868	chr22:23405747-23405748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538549861	chr22:23405772-23405773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188081665	chr22:23405776-23405777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568281905	chr22:23405827-23405828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376875974	chr22:23405831-23405832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372114939	chr22:23405856-23405857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540661345	chr22:23405871-23405872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560490014	chr22:23405898-23405899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374753292	chr22:23405903-23405904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546282238	chr22:23405906-23405907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562675519	chr22:23405924-23405925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531379035	chr22:23405927-23405928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:208)

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
low-grade B-cell lymphoma tumor	18367492	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
Developmental delay	21147756	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
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23398200-23408000	Weak transcription	Fetal Brain Male	brain
2	chr22:23400800-23411600	Strong transcription	Right Atrium	heart
3	chr22:23401000-23406600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:23401200-23410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:23401400-23407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:23401600-23406200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:23402200-23408800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr22:23406000-23406200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:23406200-23406400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:23406200-23407600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:23406400-23407000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr22:23406600-23407600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:23406800-23407200	Enhancers	HSMMtube	muscle
14	chr22:23407000-23407400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr22:23407200-23407400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:23407400-23408800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:23408000-23408400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:23408000-23411400	Enhancers	Fetal Brain Male	brain
19	chr22:23408800-23409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:23408800-23410000	Enhancers	Primary B cells from peripheral blood	blood
21	chr22:23409000-23410800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr22:23409000-23411200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr22:23409200-23411800	Enhancers	Left Ventricle	heart
24	chr22:23409400-23409600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:23409400-23409600	Enhancers	Brain Angular Gyrus	brain
26	chr22:23409400-23410800	Enhancers	Spleen	Spleen
27	chr22:23409400-23411400	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr22:23409600-23409800	Enhancers	Brain Cingulate Gyrus	brain
29	chr22:23409600-23409800	Enhancers	Fetal Brain Female	brain
30	chr22:23409600-23409800	Enhancers	Lung	lung
31	chr22:23409600-23410400	Enhancers	Primary B cells from cord blood	blood
32	chr22:23409600-23411000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:23409800-23410200	Enhancers	HUVEC	blood vessel
34	chr22:23409800-23410600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:23409800-23411000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:23409800-23411200	Weak transcription	Brain Angular Gyrus	brain
37	chr22:23409800-23411200	Weak transcription	Fetal Brain Female	brain
38	chr22:23410000-23411000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr22:23410000-23411400	Weak transcription	Lung	lung
40	chr22:23410000-23411400	Enhancers	Hela-S3	cervix
41	chr22:23410000-23411600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:23410200-23411600	Enhancers	Right Ventricle	heart
43	chr22:23410200-23411600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr22:23410400-23410600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:23410400-23411400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:23410400-23411800	Weak transcription	Primary B cells from cord blood	blood
47	chr22:23410800-23411200	Weak transcription	Spleen	Spleen
48	chr22:23410800-23411800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:23411000-23411400	Enhancers	Brain Hippocampus Middle	brain
50	chr22:23411000-23411400	Bivalent Enhancer	HepG2	liver

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