Variant report

Variant	esv1806531
Chromosome Location	chr22:23400739-23448258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:999)
CpG islands
(count:1102)
Chromatin interactive
region (count:66)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:999 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23421574-23421863	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23417805-23418528	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23414415-23414594	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:23412042-23412327	K562	blood:	n/a	n/a
5	ATF1	chr22:23446423-23446625	K562	blood:	n/a	n/a
6	ATF1	chr22:23428923-23429344	K562	blood:	n/a	n/a
7	ATF1	chr22:23433445-23433945	K562	blood:	n/a	n/a
8	ATF1	chr22:23446923-23447175	K562	blood:	n/a	n/a
9	ATF1	chr22:23429744-23429944	K562	blood:	n/a	n/a
10	ATF1	chr22:23422094-23422550	K562	blood:	n/a	n/a
11	ATF1	chr22:23404605-23405065	K562	blood:	n/a	n/a
12	ATF3	chr22:23431299-23431785	K562	blood:	n/a	n/a
13	ATF3	chr22:23419725-23420270	K562	blood:	n/a	n/a
14	ATF3	chr22:23412538-23413179	K562	blood:	n/a	chr22:23412615-23412635
15	ATF3	chr22:23407775-23408396	K562	blood:	n/a	n/a
16	ATF3	chr22:23417883-23418245	HepG2	liver:	n/a	n/a
17	ATF3	chr22:23413341-23414197	K562	blood:	n/a	n/a
18	ATF3	chr22:23446218-23446672	K562	blood:	n/a	chr22:23446384-23446398
19	ATF3	chr22:23448059-23448459	K562	blood:	n/a	chr22:23448285-23448294
20	ATF3	chr22:23441552-23442091	K562	blood:	n/a	n/a
21	ATF3	chr22:23410745-23412527	K562	blood:	n/a	chr22:23412290-23412299 chr22:23412264-23412273
22	ATF3	chr22:23443694-23444487	K562	blood:	n/a	n/a
23	ATF3	chr22:23428511-23429349	K562	blood:	n/a	n/a
24	BACH1	chr22:23412007-23412324	K562	blood:	n/a	n/a
25	BACH1	chr22:23411158-23411174	K562	blood:	n/a	n/a
26	BACH1	chr22:23430475-23430950	H1-hESC	embryonic stem cell:	n/a	chr22:23430710-23430724
27	BACH1	chr22:23428933-23429363	K562	blood:	n/a	n/a
28	BACH1	chr22:23411960-23412460	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr22:23430594-23430815	K562	blood:	n/a	chr22:23430710-23430724
30	BACH1	chr22:23405036-23405216	K562	blood:	n/a	n/a
31	BACH1	chr22:23442080-23442103	H1-hESC	embryonic stem cell:	n/a	n/a
32	BHLHE40	chr22:23405744-23405912	K562	blood:	n/a	n/a
33	BHLHE40	chr22:23441124-23441137	K562	blood:	n/a	n/a
34	BHLHE40	chr22:23411236-23411414	K562	blood:	n/a	n/a
35	BHLHE40	chr22:23414411-23414811	K562	blood:	n/a	n/a
36	BHLHE40	chr22:23447666-23448556	K562	blood:	n/a	chr22:23448285-23448294 chr22:23448286-23448295 chr22:23448283-23448296 chr22:23448285-23448294 chr22:23448284-23448293 chr22:23448279-23448300
37	BHLHE40	chr22:23431765-23431771	K562	blood:	n/a	n/a
38	BHLHE40	chr22:23422521-23422593	K562	blood:	n/a	n/a
39	BHLHE40	chr22:23427492-23427931	K562	blood:	n/a	n/a
40	BHLHE40	chr22:23430460-23430825	K562	blood:	n/a	chr22:23430645-23430661
41	BHLHE40	chr22:23428737-23429499	K562	blood:	n/a	n/a
42	BHLHE40	chr22:23401648-23401855	K562	blood:	n/a	n/a
43	BHLHE40	chr22:23446979-23447018	K562	blood:	n/a	n/a
44	BHLHE40	chr22:23442622-23442639	K562	blood:	n/a	n/a
45	BHLHE40	chr22:23417788-23418480	HepG2	liver:	n/a	n/a
46	BHLHE40	chr22:23412225-23412668	GM12878	blood:	n/a	chr22:23412312-23412328
47	BHLHE40	chr22:23412734-23412776	K562	blood:	n/a	n/a
48	BHLHE40	chr22:23440320-23440672	K562	blood:	n/a	n/a
49	BHLHE40	chr22:23407832-23408094	K562	blood:	n/a	n/a
50	BHLHE40	chr22:23419752-23419754	K562	blood:	n/a	n/a

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23437461-23437511	HepG2	liver:	n/a
2	chr22:23437461-23437511	HRCEpiC	kidney:	n/a
3	chr22:23438430-23438480	HNPCEpiC	eye:	n/a
4	chr22:23441402-23441452	AG10803	skin:	n/a
5	chr22:23437461-23437511	HepG2	liver:	n/a
6	chr22:23437461-23437511	HRCEpiC	kidney:	n/a
7	chr22:23438430-23438480	HNPCEpiC	eye:	n/a
8	chr22:23441402-23441452	AG10803	skin:	n/a
9	chr22:23415915-23415965	AG09319	gingival:	n/a
10	chr22:23438507-23438557	NT2-D1	testis:	n/a
11	chr22:23438059-23438109	K562	blood:	n/a
12	chr22:23437461-23437511	ovcar-3	ovarian:	n/a
13	chr22:23411986-23412036	PANC-1	pancreas:	n/a
14	chr22:23411986-23412036	ProgFib	skin:	n/a
15	chr22:23415316-23415366	AG09309	skin:	n/a
16	chr22:23411986-23412036	GM12892	blood:	n/a
17	chr22:23435458-23435508	NB4	blood:	n/a
18	chr22:23435458-23435508	AG09319	gingival:	n/a
19	chr22:23438116-23438166	ProgFib	skin:	n/a
20	chr22:23437461-23437511	RPTEC	kidney:	n/a
21	chr22:23437461-23437511	HEEpiC	esophagus:	n/a
22	chr22:23413260-23413310	SAEC	small airway:	n/a
23	chr22:23412814-23412864	HNPCEpiC	eye:	n/a
24	chr22:23438507-23438557	HUVEC	blood vessel:	n/a
25	chr22:23415915-23415965	AG04450	lung:	fetal
26	chr22:23413066-23413116	MCF10A-Er-Src	breast:	n/a
27	chr22:23441402-23441452	U87	brain:	n/a
28	chr22:23438116-23438166	HPAEpiC	pulmonary alveolar:	n/a
29	chr22:23437461-23437511	HRPEpiC	eye:	n/a
30	chr22:23438116-23438166	SK-N-SH	brain:	n/a
31	chr22:23413066-23413116	SKMC	muscle:	n/a
32	chr22:23413260-23413310	MCF-7	breast:	n/a
33	chr22:23437461-23437511	SK-N-MC	brain:	n/a
34	chr22:23435458-23435508	HMEC	breast:	n/a
35	chr22:23409066-23409116	HRE	kidney:	n/a
36	chr22:23412814-23412864	U87	brain:	n/a
37	chr22:23415316-23415366	NHBE	bronchial:	n/a
38	chr22:23413066-23413116	HCF	heart:	n/a
39	chr22:23438507-23438557	RPTEC	kidney:	n/a
40	chr22:23438116-23438166	Caco-2	colon:	n/a
41	chr22:23413066-23413116	MCF-7	breast:	n/a
42	chr22:23412225-23412275	U87	brain:	n/a
43	chr22:23413260-23413310	HEK293	kidney:	embryo
44	chr22:23412814-23412864	GM12892	blood:	n/a
45	chr22:23413784-23413834	HUVEC	blood vessel:	n/a
46	chr22:23435458-23435508	HAEpiC	amniotic membrane:	n/a
47	chr22:23413066-23413116	Hepatocyte	liver:	n/a
48	chr22:23438430-23438480	NT2-D1	testis:	n/a
49	chr22:23415316-23415366	MCF10A-Er-Src	breast:	n/a
50	chr22:23415316-23415366	AoSMC	blood vessel:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:103124107..103124628-chr22:23442414..23442932,2	Hela-S3	cervix:
2	chr22:23324602..23327357-chr22:23427620..23429535,2	K562	blood:
3	chr11:62608619..62609155-chr22:23442412..23442932,4	NB4	blood:
4	chr22:23433414..23435124-chr22:23436092..23438297,2	MCF-7	breast:
5	chr22:23076747..23078948-chr22:23441540..23444445,2	K562	blood:
6	chr1:160080967..160082485-chr22:23441434..23444432,2	K562	blood:
7	chr22:23426024..23426653-chr22:23437564..23438367,2	K562	blood:
8	chr22:23403929..23407317-chr22:23410514..23413721,3	MCF-7	breast:
9	chr22:23416844..23419763-chr22:23421537..23423380,2	MCF-7	breast:
10	chr22:23442932..23443434-chr3:73160092..73160609,2	MCF-7	breast:
11	chr22:23425767..23428206-chr22:23439942..23442818,2	MCF-7	breast:
12	chr22:23441412..23442932-chr3:73158449..73161592,6	MCF-7	breast:
13	chr22:23442432..23443434-chr3:73159604..73160611,4	Hela-S3	cervix:
14	chr11:62608618..62609198-chr22:23442412..23442934,5	Hela-S3	cervix:
15	chr22:23411950..23413518-chr22:23417233..23418775,2	MCF-7	breast:
16	chr22:23410097..23412761-chr22:23419396..23421596,3	MCF-7	breast:
17	chr22:23436752..23438822-chr22:23487240..23488966,2	K562	blood:
18	chr11:62607635..62609145-chr22:23441414..23442934,2	MCF-7	breast:
19	chr11:62607619..62610620-chr22:23441412..23442934,5	K562	blood:
20	chr22:23442414..23442932-chr9:135931462..135931982,2	HCT-116	colon:
21	chr17:41444710..41446469-chr22:23441412..23442932,2	K562	blood:
22	chr22:23416844..23419763-chr22:23421537..23423380,2	MCF-7	breast:
23	chr22:23145494..23147180-chr22:23431987..23434426,2	K562	blood:
24	chr22:23441412..23442932-chr3:73160048..73161604,4	K562	blood:
25	chr22:23355380..23358360-chr22:23403183..23404743,2	K562	blood:
26	chr22:23440648..23443320-chr22:23445760..23448737,2	MCF-7	breast:
27	chr22:23441414..23444412-chr3:73159069..73160589,2	K562	blood:
28	chr17:41465701..41467816-chr22:23441432..23442934,2	MCF-7	breast:
29	chr22:23408872..23410442-chr22:23410645..23412987,2	MCF-7	breast:
30	chr22:23394863..23396598-chr22:23407531..23409388,2	K562	blood:
31	chr22:23374639..23377094-chr22:23403391..23405096,2	K562	blood:
32	chr22:23426024..23426653-chr22:23437564..23438367,2	K562	blood:
33	chr22:23441412..23442934-chr3:73158605..73161610,5	MCF-7	breast:
34	chr17:41398950..41401960-chr22:23441412..23444434,7	K562	blood:
35	chr22:23413096..23416095-chr22:23416099..23417835,2	MCF-7	breast:
36	chr22:23433414..23435124-chr22:23436092..23438297,2	MCF-7	breast:
37	chr22:23301062..23301649-chr22:23419776..23420411,2	MCF-7	breast:
38	chr17:41380296..41383453-chr22:23441412..23444412,4	K562	blood:
39	chr17:41398816..41402548-chr22:23441414..23444434,6	K562	blood:
40	chr22:23413096..23416095-chr22:23416099..23417835,2	MCF-7	breast:
41	chr11:62607633..62610696-chr22:23441412..23442934,3	MCF-7	breast:
42	chr11:62608631..62609223-chr22:23442412..23442932,3	MCF-7	breast:
43	chr17:41380629..41383453-chr22:23441414..23442934,3	K562	blood:
44	chr22:23414964..23416683-chr22:23421843..23423619,2	MCF-7	breast:
45	chr11:62608624..62609220-chr22:23442412..23442934,5	MCF-7	breast:
46	chr17:41463335..41467200-chr22:23441412..23442934,4	K562	blood:
47	chr22:23442914..23443432-chr5:140453591..140454111,2	Hela-S3	cervix:
48	chr22:23435451..23438238-chr22:23506678..23508386,2	K562	blood:
49	chr22:23440648..23443320-chr22:23445760..23448737,2	MCF-7	breast:
50	chr22:23384451..23387159-chr22:23405089..23407369,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB36-1	chr22:23412760-23412941	NONHSAT083846
2	lnc-RAB36-1	chr22:23437434-23437903	NONHSAT083846

No data

Variant related genes	Relation type
GNAZ	TF binding region
GNAZ	CpG island
ENSG00000100228	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000128266	chromatin interactions
ENSG00000211664	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000100218	chromatin interactions

Extended variants
information (count: 1841 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:1841 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372350056	chr22:23400802-23400803	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543245124	chr22:23400806-23400807	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577326792	chr22:23400913-23400914	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs137896699	chr22:23400963-23400964	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146575363	chr22:23400969-23400970	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529464102	chr22:23400970-23400971	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142007743	chr22:23401043-23401044	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187869709	chr22:23401044-23401045	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528808183	chr22:23401068-23401069	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557022985	chr22:23401079-23401080	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371326637	chr22:23401083-23401084	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552133988	chr22:23401098-23401099	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527465547	chr22:23401103-23401104	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547684168	chr22:23401104-23401105	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533399080	chr22:23401124-23401125	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376815615	chr22:23401158-23401159	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533034548	chr22:23401310-23401311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369774792	chr22:23401334-23401335	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549409899	chr22:23401420-23401421	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192433416	chr22:23401431-23401432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114782975	chr22:23401499-23401500	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371465448	chr22:23401526-23401527	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548759169	chr22:23401564-23401565	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568661709	chr22:23401578-23401579	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534100544	chr22:23401582-23401583	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554329467	chr22:23401586-23401587	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28505131	chr22:23401588-23401589	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370612899	chr22:23401629-23401630	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs200192920	chr22:23401632-23401633	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs141981803	chr22:23401668-23401669	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs556605808	chr22:23401683-23401684	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs145771609	chr22:23401684-23401685	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs35881601	chr22:23401696-23401697	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs562005742	chr22:23401697-23401698	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs149525500	chr22:23401715-23401716	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs368611295	chr22:23401720-23401721	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs144040511	chr22:23401738-23401739	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs148656886	chr22:23401750-23401751	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533095411	chr22:23401754-23401755	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs376890646	chr22:23401757-23401758	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs368272952	chr22:23401766-23401767	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs34263197	chr22:23401770-23401771	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201007500	chr22:23401775-23401776	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs147385961	chr22:23401777-23401778	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs139557078	chr22:23401778-23401779	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs549080037	chr22:23401794-23401795	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs145071477	chr22:23401822-23401823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544332778	chr22:23401826-23401827	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372482270	chr22:23401834-23401835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55964741	chr22:23401865-23401866	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:211)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23397600-23400800	Weak transcription	Primary B cells from cord blood	blood
2	chr22:23398200-23408000	Weak transcription	Fetal Brain Male	brain
3	chr22:23398400-23400800	Weak transcription	Right Atrium	heart
4	chr22:23398400-23402000	Weak transcription	Spleen	Spleen
5	chr22:23400400-23401000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:23400400-23401000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:23400400-23401200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:23400600-23401200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:23400600-23401200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:23400800-23401400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:23400800-23402000	Enhancers	Primary B cells from cord blood	blood
12	chr22:23400800-23402200	Enhancers	Primary B cells from peripheral blood	blood
13	chr22:23400800-23411600	Strong transcription	Right Atrium	heart
14	chr22:23401000-23406600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:23401200-23401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:23401200-23401600	Enhancers	GM12878-XiMat	blood
17	chr22:23401200-23410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:23401400-23401600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:23401400-23407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:23401600-23401800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr22:23401600-23406200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:23402000-23402200	Enhancers	Spleen	Spleen
23	chr22:23402200-23408800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr22:23406000-23406200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:23406200-23406400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:23406200-23407600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:23406400-23407000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr22:23406600-23407600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:23406800-23407200	Enhancers	HSMMtube	muscle
30	chr22:23407000-23407400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr22:23407200-23407400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:23407400-23408800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:23408000-23408400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:23408000-23411400	Enhancers	Fetal Brain Male	brain
35	chr22:23408800-23409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:23408800-23410000	Enhancers	Primary B cells from peripheral blood	blood
37	chr22:23409000-23410800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr22:23409000-23411200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr22:23409200-23411800	Enhancers	Left Ventricle	heart
40	chr22:23409400-23409600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:23409400-23409600	Enhancers	Brain Angular Gyrus	brain
42	chr22:23409400-23410800	Enhancers	Spleen	Spleen
43	chr22:23409400-23411400	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr22:23409600-23409800	Enhancers	Brain Cingulate Gyrus	brain
45	chr22:23409600-23409800	Enhancers	Fetal Brain Female	brain
46	chr22:23409600-23409800	Enhancers	Lung	lung
47	chr22:23409600-23410400	Enhancers	Primary B cells from cord blood	blood
48	chr22:23409600-23411000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:23409800-23410200	Enhancers	HUVEC	blood vessel
50	chr22:23409800-23410600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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