Variant report

Variant	nsv544614
Chromosome Location	chr22:23410046-23419488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:452)
CpG islands
(count:611)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:452 , 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	chr22:23412042-23412327	K562	blood:	n/a	n/a
2	ARID3A	chr22:23414415-23414594	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23417805-23418528	HepG2	liver:	n/a	n/a
4	ATF3	chr22:23410745-23412527	K562	blood:	n/a	chr22:23412290-23412299 chr22:23412264-23412273
5	ATF3	chr22:23413341-23414197	K562	blood:	n/a	n/a
6	ATF3	chr22:23412538-23413179	K562	blood:	n/a	chr22:23412615-23412635
7	ATF3	chr22:23417883-23418245	HepG2	liver:	n/a	n/a
8	BACH1	chr22:23412007-23412324	K562	blood:	n/a	n/a
9	BACH1	chr22:23411158-23411174	K562	blood:	n/a	n/a
10	BACH1	chr22:23411960-23412460	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr22:23411236-23411414	K562	blood:	n/a	n/a
12	BHLHE40	chr22:23412734-23412776	K562	blood:	n/a	n/a
13	BHLHE40	chr22:23412225-23412668	GM12878	blood:	n/a	chr22:23412312-23412328
14	BHLHE40	chr22:23417788-23418480	HepG2	liver:	n/a	n/a
15	BHLHE40	chr22:23414411-23414811	K562	blood:	n/a	n/a
16	BHLHE40	chr22:23411634-23412526	K562	blood:	n/a	chr22:23411892-23411908 chr22:23412312-23412328
17	BRCA1	chr22:23416965-23416981	HepG2	liver:	n/a	n/a
18	BRCA1	chr22:23417880-23418406	HepG2	liver:	n/a	n/a
19	BRCA1	chr22:23412034-23412363	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr22:23414425-23414434	HepG2	liver:	n/a	n/a
21	CBX3	chr22:23418273-23418729	K562	blood:	n/a	n/a
22	CBX3	chr22:23411343-23412481	K562	blood:	n/a	n/a
23	CCNT2	chr22:23411812-23413487	K562	blood:	n/a	chr22:23412310-23412319 chr22:23413406-23413415
24	CEBPB	chr22:23418714-23418980	K562	blood:	n/a	n/a
25	CEBPB	chr22:23411921-23412298	K562	blood:	n/a	n/a
26	CEBPB	chr22:23411906-23412369	HepG2	liver:	n/a	n/a
27	CEBPB	chr22:23417401-23417601	HepG2	liver:	n/a	n/a
28	CEBPB	chr22:23411888-23412379	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr22:23412200-23412521	HepG2	liver:	n/a	n/a
30	CEBPD	chr22:23417763-23418350	HepG2	liver:	n/a	n/a
31	CHD2	chr22:23413813-23413954	HepG2	liver:	n/a	n/a
32	CHD2	chr22:23412736-23412928	K562	blood:	n/a	n/a
33	CHD2	chr22:23417347-23417400	HepG2	liver:	n/a	n/a
34	CHD2	chr22:23417871-23418602	HepG2	liver:	n/a	n/a
35	CHD2	chr22:23416263-23416355	HepG2	liver:	n/a	n/a
36	CHD2	chr22:23419487-23419529	HepG2	liver:	n/a	n/a
37	CHD2	chr22:23415988-23415999	K562	blood:	n/a	n/a
38	CHD2	chr22:23412051-23412433	HepG2	liver:	n/a	chr22:23412265-23412275
39	CHD2	chr22:23412062-23412510	GM12878	blood:	n/a	chr22:23412265-23412275
40	CHD2	chr22:23411488-23412528	K562	blood:	n/a	chr22:23412265-23412275
41	CHD2	chr22:23411873-23412541	Hela-S3	cervix:	n/a	chr22:23412265-23412275
42	CHD2	chr22:23412157-23412515	H1-hESC	embryonic stem cell:	n/a	chr22:23412265-23412275
43	CHD2	chr22:23413218-23413726	K562	blood:	n/a	n/a
44	CREB1	chr22:23412131-23412791	A549	lung:	n/a	n/a
45	CREB1	chr22:23411877-23412605	HepG2	liver:	n/a	n/a
46	CTCF	chr22:23412140-23412290	NHEK	skin:	n/a	chr22:23412210-23412223
47	CTCF	chr22:23412740-23412890	AG04449	skin:	n/a	n/a
48	CTCF	chr22:23415780-23415930	K562	blood:	n/a	chr22:23415802-23415811
49	CTCF	chr22:23415700-23415850	K562	blood:	n/a	chr22:23415802-23415811
50	CTCF	chr22:23412269-23412577	Spleen_OC	spleen:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23412408-23412458	HCF	heart:	n/a
2	chr22:23412408-23412458	HCF	heart:	n/a
3	chr22:23412408-23412458	T-47D	breast:	n/a
4	chr22:23412408-23412458	Jurkat	blood:	n/a
5	chr22:23413260-23413310	H1-hESC	embryonic stem cell:	embryo
6	chr22:23415316-23415366	HCT-116	colon:	n/a
7	chr22:23412225-23412275	BJ	skin:	n/a
8	chr22:23413784-23413834	K562	blood:	n/a
9	chr22:23412225-23412275	AG09309	skin:	n/a
10	chr22:23415316-23415366	AG09309	skin:	n/a
11	chr22:23412814-23412864	AG09309	skin:	n/a
12	chr22:23415316-23415366	Hepatocyte	liver:	n/a
13	chr22:23413260-23413310	HUVEC	blood vessel:	n/a
14	chr22:23412814-23412864	SK-N-SH	brain:	n/a
15	chr22:23413260-23413310	Hela-S3	cervix:	n/a
16	chr22:23411986-23412036	Hepatocyte	liver:	n/a
17	chr22:23413260-23413310	MCF-7	breast:	n/a
18	chr22:23413260-23413310	IMR90	lung:	fetal
19	chr22:23412408-23412458	NT2-D1	testis:	n/a
20	chr22:23413066-23413116	HRE	kidney:	n/a
21	chr22:23413260-23413310	HL-60	blood:	n/a
22	chr22:23415915-23415965	HIPEpiC	eye:	n/a
23	chr22:23411986-23412036	PrEC	prostate:	n/a
24	chr22:23412408-23412458	MCF10A-Er-Src	breast:	n/a
25	chr22:23412408-23412458	SK-N-SH_RA	brain:	n/a
26	chr22:23412381-23412431	HRCEpiC	kidney:	n/a
27	chr22:23411986-23412036	GM12878	blood:	n/a
28	chr22:23411986-23412036	HUVEC	blood vessel:	n/a
29	chr22:23415915-23415965	HCT-116	colon:	n/a
30	chr22:23413260-23413310	PANC-1	pancreas:	n/a
31	chr22:23412814-23412864	T-47D	breast:	n/a
32	chr22:23415316-23415366	MCF10A-Er-Src	breast:	n/a
33	chr22:23412408-23412458	HRCEpiC	kidney:	n/a
34	chr22:23413260-23413310	NT2-D1	testis:	n/a
35	chr22:23412225-23412275	AG09319	gingival:	n/a
36	chr22:23411986-23412036	IMR90	lung:	fetal
37	chr22:23413260-23413310	HepG2	liver:	n/a
38	chr22:23413784-23413834	GM06990	blood:	n/a
39	chr22:23412408-23412458	HepG2	liver:	n/a
40	chr22:23413260-23413310	MCF10A-Er-Src	breast:	n/a
41	chr22:23412225-23412275	HMEC	breast:	n/a
42	chr22:23412408-23412458	HL-60	blood:	n/a
43	chr22:23411986-23412036	MCF-7	breast:	n/a
44	chr22:23412814-23412864	HPAEpiC	pulmonary alveolar:	n/a
45	chr22:23412814-23412864	BJ	skin:	n/a
46	chr22:23415915-23415965	HCM	heart:	n/a
47	chr22:23415316-23415366	SAEC	small airway:	n/a
48	chr22:23415915-23415965	T-47D	breast:	n/a
49	chr22:23413784-23413834	ovcar-3	ovarian:	n/a
50	chr22:23413260-23413310	AoSMC	blood vessel:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23411375..23413092-chr22:23413561..23415479,2	MCF-7	breast:
2	chr22:23416844..23419763-chr22:23421537..23423380,2	MCF-7	breast:
3	chr22:23410097..23412761-chr22:23419396..23421596,3	MCF-7	breast:
4	chr22:23413096..23416095-chr22:23416099..23417835,2	MCF-7	breast:
5	chr22:23414964..23416683-chr22:23421843..23423619,2	MCF-7	breast:
6	chr22:23413096..23416095-chr22:23416099..23417835,2	MCF-7	breast:
7	chr22:23408872..23410442-chr22:23410645..23412987,2	MCF-7	breast:
8	chr22:23411950..23413518-chr22:23417233..23418775,2	MCF-7	breast:
9	chr22:23410484..23412785-chr22:23485960..23488893,2	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
ENSG00000100228	chromatin interactions
ENSG00000100218	chromatin interactions
ENSG00000128266	chromatin interactions

Extended variants
information (count: 313 )
Associated
traits (count: 209 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147620495	chr22:23410073-23410074	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368435691	chr22:23410084-23410085	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543929488	chr22:23410117-23410118	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574126304	chr22:23410153-23410154	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs188914788	chr22:23410180-23410181	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559657016	chr22:23410223-23410224	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528738008	chr22:23410245-23410246	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34836574	chr22:23410247-23410248	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs193244257	chr22:23410287-23410288	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140585940	chr22:23410333-23410334	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs78556717	chr22:23410350-23410351	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550768879	chr22:23410359-23410360	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs59774584	chr22:23410390-23410391	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544789148	chr22:23410393-23410394	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529949706	chr22:23410420-23410421	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377251997	chr22:23410481-23410482	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539538342	chr22:23410497-23410498	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs56833776	chr22:23410524-23410525	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566816202	chr22:23410534-23410535	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538923573	chr22:23410549-23410550	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs552158041	chr22:23410596-23410597	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs370435409	chr22:23410606-23410607	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs568715222	chr22:23410715-23410716	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537970300	chr22:23410794-23410795	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs185361092	chr22:23410867-23410868	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs13054904	chr22:23410918-23410919	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs41277527	chr22:23411052-23411053	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs147768813	chr22:23411083-23411084	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs552975578	chr22:23411134-23411135	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs371046574	chr22:23411170-23411171	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375285952	chr22:23411211-23411212	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs574752399	chr22:23411244-23411245	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs113303482	chr22:23411248-23411249	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs565301484	chr22:23411337-23411338	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs142353980	chr22:23411347-23411348	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs544578683	chr22:23411432-23411433	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs561253292	chr22:23411477-23411478	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530212481	chr22:23411504-23411505	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs529266327	chr22:23411565-23411566	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs560086920	chr22:23411567-23411568	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs181402762	chr22:23411602-23411603	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560347494	chr22:23411623-23411624	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs148835812	chr22:23411639-23411640	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs552161110	chr22:23411650-23411651	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs73401120	chr22:23411670-23411671	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537481299	chr22:23411692-23411693	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs562916185	chr22:23411756-23411757	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs548150244	chr22:23411785-23411786	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567862448	chr22:23411799-23411800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533632894	chr22:23411802-23411803	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:209)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23400800-23411600	Strong transcription	Right Atrium	heart
2	chr22:23401200-23410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:23408000-23411400	Enhancers	Fetal Brain Male	brain
4	chr22:23409000-23410800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr22:23409000-23411200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr22:23409200-23411800	Enhancers	Left Ventricle	heart
7	chr22:23409400-23410800	Enhancers	Spleen	Spleen
8	chr22:23409400-23411400	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr22:23409600-23410400	Enhancers	Primary B cells from cord blood	blood
10	chr22:23409600-23411000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:23409800-23410200	Enhancers	HUVEC	blood vessel
12	chr22:23409800-23410600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:23409800-23411000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:23409800-23411200	Weak transcription	Brain Angular Gyrus	brain
15	chr22:23409800-23411200	Weak transcription	Fetal Brain Female	brain
16	chr22:23410000-23411000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:23410000-23411400	Weak transcription	Lung	lung
18	chr22:23410000-23411400	Enhancers	Hela-S3	cervix
19	chr22:23410000-23411600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr22:23410200-23411600	Enhancers	Right Ventricle	heart
21	chr22:23410200-23411600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr22:23410400-23410600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:23410400-23411400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:23410400-23411800	Weak transcription	Primary B cells from cord blood	blood
25	chr22:23410800-23411200	Weak transcription	Spleen	Spleen
26	chr22:23410800-23411800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr22:23411000-23411400	Enhancers	Brain Hippocampus Middle	brain
28	chr22:23411000-23411400	Bivalent Enhancer	HepG2	liver
29	chr22:23411000-23411600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:23411000-23411600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:23411000-23411600	Enhancers	Brain Cingulate Gyrus	brain
32	chr22:23411200-23411400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:23411200-23411400	Enhancers	Brain Angular Gyrus	brain
34	chr22:23411200-23411400	Enhancers	Brain Anterior Caudate	brain
35	chr22:23411200-23411600	Enhancers	Brain Germinal Matrix	brain
36	chr22:23411200-23411600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr22:23411200-23411600	Enhancers	Fetal Brain Female	brain
38	chr22:23411200-23412000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr22:23411200-23412000	Enhancers	Gastric	stomach
40	chr22:23411200-23412000	Enhancers	Spleen	Spleen
41	chr22:23411200-23412400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr22:23411400-23411600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr22:23411400-23411600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:23411400-23411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr22:23411400-23411600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr22:23411400-23411600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:23411400-23411600	Enhancers	Brain Substantia Nigra	brain
48	chr22:23411400-23411800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:23411400-23411800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:23411400-23411800	Enhancers	Adipose Nuclei	Adipose

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