Variant report

Variant	nsv914577
Chromosome Location	chr22:23439530-23478695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:834)
CpG islands
(count:122)
Chromatin interactive
region (count:84)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23470637-23470929	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23470320-23470325	K562	blood:	n/a	n/a
3	ATF1	chr22:23461696-23462441	K562	blood:	n/a	n/a
4	ATF1	chr22:23473568-23473599	K562	blood:	n/a	n/a
5	ATF1	chr22:23474991-23475521	K562	blood:	n/a	n/a
6	ATF1	chr22:23446923-23447175	K562	blood:	n/a	n/a
7	ATF1	chr22:23446423-23446625	K562	blood:	n/a	n/a
8	ATF3	chr22:23463213-23463673	K562	blood:	n/a	n/a
9	ATF3	chr22:23441552-23442091	K562	blood:	n/a	n/a
10	ATF3	chr22:23449339-23449865	K562	blood:	n/a	n/a
11	ATF3	chr22:23465265-23465707	K562	blood:	n/a	n/a
12	ATF3	chr22:23448059-23448459	K562	blood:	n/a	chr22:23448285-23448294
13	ATF3	chr22:23453134-23454026	K562	blood:	n/a	chr22:23453673-23453686 chr22:23453463-23453483
14	ATF3	chr22:23470997-23471670	K562	blood:	n/a	n/a
15	ATF3	chr22:23462045-23462992	K562	blood:	n/a	n/a
16	ATF3	chr22:23465812-23466225	K562	blood:	n/a	n/a
17	ATF3	chr22:23443694-23444487	K562	blood:	n/a	n/a
18	ATF3	chr22:23453044-23453449	K562	blood:	n/a	n/a
19	ATF3	chr22:23466749-23467297	K562	blood:	n/a	n/a
20	ATF3	chr22:23474006-23474686	K562	blood:	n/a	n/a
21	ATF3	chr22:23470012-23470968	K562	blood:	n/a	n/a
22	ATF3	chr22:23446218-23446672	K562	blood:	n/a	chr22:23446384-23446398
23	BACH1	chr22:23467602-23467763	K562	blood:	n/a	n/a
24	BACH1	chr22:23449705-23450064	K562	blood:	n/a	n/a
25	BACH1	chr22:23478063-23478066	K562	blood:	n/a	n/a
26	BACH1	chr22:23442080-23442103	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr22:23470551-23470916	H1-hESC	embryonic stem cell:	n/a	n/a
28	BHLHE40	chr22:23458253-23458358	K562	blood:	n/a	n/a
29	BHLHE40	chr22:23469028-23469052	K562	blood:	n/a	n/a
30	BHLHE40	chr22:23466865-23467185	K562	blood:	n/a	n/a
31	BHLHE40	chr22:23441124-23441137	K562	blood:	n/a	n/a
32	BHLHE40	chr22:23442622-23442639	K562	blood:	n/a	n/a
33	BHLHE40	chr22:23453222-23453653	K562	blood:	n/a	n/a
34	BHLHE40	chr22:23449058-23449435	K562	blood:	n/a	n/a
35	BHLHE40	chr22:23467898-23468094	K562	blood:	n/a	n/a
36	BHLHE40	chr22:23446979-23447018	K562	blood:	n/a	n/a
37	BHLHE40	chr22:23470398-23471260	K562	blood:	n/a	n/a
38	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
39	BHLHE40	chr22:23457130-23457322	K562	blood:	n/a	chr22:23457214-23457223 chr22:23457209-23457230
40	BHLHE40	chr22:23440320-23440672	K562	blood:	n/a	n/a
41	BHLHE40	chr22:23459433-23459434	K562	blood:	n/a	n/a
42	BHLHE40	chr22:23461618-23462397	K562	blood:	n/a	n/a
43	BRCA1	chr22:23470551-23470921	HepG2	liver:	n/a	n/a
44	BRCA1	chr22:23470627-23470907	H1-hESC	embryonic stem cell:	n/a	n/a
45	CBX3	chr22:23448923-23449521	K562	blood:	n/a	n/a
46	CBX3	chr22:23448986-23449462	K562	blood:	n/a	n/a
47	CBX3	chr22:23452466-23453591	K562	blood:	n/a	n/a
48	CBX3	chr22:23461000-23462799	K562	blood:	n/a	n/a
49	CCNT2	chr22:23449138-23449680	K562	blood:	n/a	chr22:23449382-23449391
50	CCNT2	chr22:23455989-23456354	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23467005-23467055	HepG2	liver:	n/a
2	chr22:23441402-23441452	HUVEC	blood vessel:	n/a
3	chr22:23441402-23441452	HNPCEpiC	eye:	n/a
4	chr22:23441402-23441452	HCM	heart:	n/a
5	chr22:23441402-23441452	GM06990	blood:	n/a
6	chr22:23467005-23467055	K562	blood:	n/a
7	chr22:23441402-23441452	HAEpiC	amniotic membrane:	n/a
8	chr22:23441402-23441452	HRPEpiC	eye:	n/a
9	chr22:23441402-23441452	LNCaP	prostate:	n/a
10	chr22:23441402-23441452	HL-60	blood:	n/a
11	chr22:23467005-23467055	SK-N-SH	brain:	n/a
12	chr22:23467005-23467055	T-47D	breast:	n/a
13	chr22:23467005-23467055	HEK293	kidney:	embryo
14	chr22:23467005-23467055	MCF-7	breast:	n/a
15	chr22:23467005-23467055	HNPCEpiC	eye:	n/a
16	chr22:23467005-23467055	GM06990	blood:	n/a
17	chr22:23467005-23467055	HMEC	breast:	n/a
18	chr22:23441402-23441452	K562	blood:	n/a
19	chr22:23441402-23441452	MCF10A-Er-Src	breast:	n/a
20	chr22:23467005-23467055	HEEpiC	esophagus:	n/a
21	chr22:23441402-23441452	AG09309	skin:	n/a
22	chr22:23441402-23441452	AG10803	skin:	n/a
23	chr22:23441402-23441452	SAEC	small airway:	n/a
24	chr22:23467005-23467055	AG09309	skin:	n/a
25	chr22:23441402-23441452	CMK	blood:	n/a
26	chr22:23441402-23441452	IMR90	lung:	fetal
27	chr22:23467005-23467055	HUVEC	blood vessel:	n/a
28	chr22:23441402-23441452	H1-hESC	embryonic stem cell:	embryo
29	chr22:23441402-23441452	SK-N-MC	brain:	n/a
30	chr22:23467005-23467055	HRCEpiC	kidney:	n/a
31	chr22:23467005-23467055	NT2-D1	testis:	n/a
32	chr22:23467005-23467055	GM12892	blood:	n/a
33	chr22:23467005-23467055	NHDF-neo	bronchial:	n/a
34	chr22:23467005-23467055	GM19239	blood:	n/a
35	chr22:23441402-23441452	Hela-S3	cervix:	n/a
36	chr22:23467005-23467055	HCM	heart:	n/a
37	chr22:23467005-23467055	Caco-2	colon:	n/a
38	chr22:23467005-23467055	Hela-S3	cervix:	n/a
39	chr22:23467005-23467055	HCF	heart:	n/a
40	chr22:23441402-23441452	T-47D	breast:	n/a
41	chr22:23441402-23441452	NB4	blood:	n/a
42	chr22:23441402-23441452	NH-A	brain:	n/a
43	chr22:23467005-23467055	PrEC	prostate:	n/a
44	chr22:23467005-23467055	AG04449	skin:	fetal
45	chr22:23467005-23467055	LNCaP	prostate:	n/a
46	chr22:23441402-23441452	HCF	heart:	n/a
47	chr22:23467005-23467055	BJ	skin:	n/a
48	chr22:23441402-23441452	SK-N-SH	brain:	n/a
49	chr22:23441402-23441452	A549	lung:	n/a
50	chr22:23467005-23467055	HPAEpiC	pulmonary alveolar:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:23035129..23035915-chr22:23470325..23471117,3	K562	blood:
2	chr22:23300037..23302100-chr22:23469484..23472123,54	MCF-7	breast:
3	chr22:23300835..23301624-chr22:23466828..23467398,3	K562	blood:
4	chr22:23465123..23466826-chr22:23468513..23470224,2	K562	blood:
5	chr22:23470504..23471287-chr9:133738739..133739577,2	K562	blood:
6	chr22:23302491..23304383-chr22:23468441..23470876,3	K562	blood:
7	chr22:23301147..23302267-chr22:23472305..23473430,4	K562	blood:
8	chr22:23412008..23413787-chr22:23467964..23470868,2	K562	blood:
9	chr22:23301109..23301947-chr22:23468669..23469381,3	MCF-7	breast:
10	chr22:23300239..23302916-chr22:23468459..23471796,133	K562	blood:
11	chr22:23301279..23302000-chr22:23452266..23453117,2	MCF-7	breast:
12	chr22:23440648..23443320-chr22:23445760..23448737,2	MCF-7	breast:
13	chr17:41380629..41383453-chr22:23441414..23442934,3	K562	blood:
14	chr22:23297770..23298924-chr22:23470211..23471441,11	K562	blood:
15	chr22:23301242..23301858-chr22:23461578..23462204,2	MCF-7	breast:
16	chr11:62607619..62609155-chr22:23441414..23442934,6	K562	blood:
17	chr22:23452087..23454123-chr22:23620144..23622923,2	K562	blood:
18	chr22:23130361..23131337-chr22:23470306..23470892,3	K562	blood:
19	chr22:23461502..23462491-chr22:23469898..23470845,2	K562	blood:
20	chr22:23461434..23463209-chr22:23523024..23524545,2	K562	blood:
21	chr11:62607633..62610696-chr22:23441412..23442934,3	MCF-7	breast:
22	chr22:23455386..23456886-chr22:24025286..24027677,2	K562	blood:
23	chr17:41465701..41467816-chr22:23441432..23442934,2	MCF-7	breast:
24	chr22:23440648..23443320-chr22:23445760..23448737,2	MCF-7	breast:
25	chr22:23470561..23472546-chr22:23479577..23481935,3	K562	blood:
26	chr11:62608619..62609155-chr22:23442412..23442932,4	NB4	blood:
27	chr11:62608624..62609220-chr22:23442412..23442934,5	MCF-7	breast:
28	chr22:23450536..23453270-chr22:23482845..23484354,2	K562	blood:
29	chr22:23425767..23428206-chr22:23439942..23442818,2	MCF-7	breast:
30	chr22:23144551..23145511-chr22:23470374..23471293,4	K562	blood:
31	chr22:23108876..23110628-chr22:23461887..23463461,2	K562	blood:
32	chr22:23190238..23191197-chr22:23470317..23471306,10	K562	blood:
33	chr17:41380296..41383453-chr22:23441412..23444412,4	K562	blood:
34	chr22:23470325..23471074-chr9:133873384..133874131,3	K562	blood:
35	chr22:23301407..23302031-chr22:23455093..23455815,2	K562	blood:
36	chr11:62608618..62609198-chr22:23442412..23442934,5	Hela-S3	cervix:
37	chr17:41463335..41467702-chr22:23441412..23442934,4	K562	blood:
38	chr11:62608623..62609626-chr22:23442412..23442934,9	HCT-116	colon:
39	chr17:41398816..41402548-chr22:23441414..23444434,6	K562	blood:
40	chr22:23462252..23463773-chr9:133870229..133873078,2	K562	blood:
41	chr22:19418950..19420897-chr22:23461567..23463431,2	K562	blood:
42	chr22:23442412..23443434-chr3:73159932..73160609,5	HCT-116	colon:
43	chr22:23152190..23153132-chr22:23470308..23471292,3	K562	blood:
44	chr22:23465678..23467824-chr22:23492176..23494707,2	K562	blood:
45	chr1:160080967..160082485-chr22:23441434..23444432,2	K562	blood:
46	chr22:23053361..23053890-chr22:23470302..23470878,2	K562	blood:
47	chr22:23465123..23466826-chr22:23468513..23470224,2	K562	blood:
48	chr22:23470161..23471750-chr22:23485735..23487524,2	K562	blood:
49	chr22:23441412..23442934-chr3:73158605..73161610,5	MCF-7	breast:
50	chr22:23442432..23443434-chr3:73159604..73160611,4	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-6	chr22:23474917-23475187	NONHSAT083854

No data

Variant related genes	Relation type
RTDR1	TF binding region
ENSG00000272019	TF binding region
GNAZ	TF binding region
ENSG00000221069	TF binding region
RTDR1	CpG island
ENSG00000272019	CpG island
GNAZ	CpG island
ENSG00000221069	CpG island
ENSG00000223247	chromatin interactions
ENSG00000100218	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000128266	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000100084	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000211664	chromatin interactions

Extended variants
information (count: 1516 )
Associated
traits (count: 208 )

Variant overlapped rSNPs/rCNVs (count:1516 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs874138	chr22:23439530-23439531	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150891907	chr22:23439595-23439596	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs113942695	chr22:23439604-23439605	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs572228393	chr22:23439638-23439639	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs541541461	chr22:23439666-23439667	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs546529002	chr22:23439693-23439694	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs577816452	chr22:23439743-23439744	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs5996464	chr22:23439756-23439757	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563585389	chr22:23439760-23439761	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs139415583	chr22:23439767-23439768	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs190850678	chr22:23439791-23439792	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs557742577	chr22:23439807-23439808	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs371387295	chr22:23439830-23439831	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs7289341	chr22:23439832-23439833	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs549023640	chr22:23439845-23439846	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs559421567	chr22:23439857-23439858	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs182711464	chr22:23439876-23439877	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs551493007	chr22:23439936-23439937	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs571249557	chr22:23439954-23439955	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs188894447	chr22:23439969-23439970	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs538693877	chr22:23440018-23440019	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs73384371	chr22:23440021-23440022	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114243871	chr22:23440037-23440038	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs142728532	chr22:23440038-23440039	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs373702937	chr22:23440039-23440040	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs555616972	chr22:23440074-23440075	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs2266996	chr22:23440099-23440100	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs183029759	chr22:23440255-23440256	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs558237086	chr22:23440307-23440308	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs578003873	chr22:23440333-23440334	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs116704791	chr22:23440374-23440375	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs557167344	chr22:23440378-23440379	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs538047946	chr22:23440402-23440403	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs542980252	chr22:23440455-23440456	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs559678425	chr22:23440493-23440494	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs528134074	chr22:23440520-23440521	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs8139779	chr22:23440526-23440527	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs564999139	chr22:23440571-23440572	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs367930304	chr22:23440580-23440581	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs187357352	chr22:23440591-23440592	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs577000753	chr22:23440633-23440634	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs146065701	chr22:23440661-23440662	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs77358284	chr22:23440681-23440682	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs140064002	chr22:23440712-23440713	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs529430584	chr22:23440722-23440723	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs73384372	chr22:23440732-23440733	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566196743	chr22:23440795-23440796	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs546297977	chr22:23440812-23440813	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191917892	chr22:23440815-23440816	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs184835388	chr22:23440854-23440855	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	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
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23413600-23440600	Strong transcription	Right Atrium	heart
2	chr22:23416000-23452800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:23427800-23447600	Weak transcription	Fetal Intestine Small	intestine
4	chr22:23430600-23448600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:23431000-23444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:23431400-23444400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:23431600-23439800	Weak transcription	Pancreas	Pancrea
8	chr22:23431600-23440200	Weak transcription	Esophagus	oesophagus
9	chr22:23431600-23442000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:23432800-23439800	Weak transcription	Adipose Nuclei	Adipose
11	chr22:23433600-23442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:23433600-23454400	Weak transcription	Primary B cells from cord blood	blood
13	chr22:23436400-23440600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:23436600-23440400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:23437000-23440400	Strong transcription	Fetal Stomach	stomach
16	chr22:23437400-23441000	Weak transcription	Fetal Intestine Large	intestine
17	chr22:23437600-23439600	Strong transcription	Gastric	stomach
18	chr22:23437600-23439600	Weak transcription	Spleen	Spleen
19	chr22:23437600-23441200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:23437600-23458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:23437800-23439800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:23438000-23439600	Weak transcription	Fetal Brain Male	brain
23	chr22:23438000-23440400	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:23438400-23440000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:23438400-23441800	Strong transcription	HepG2	liver
26	chr22:23438400-23443600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:23438600-23439800	Genic enhancers	Brain Angular Gyrus	brain
28	chr22:23438600-23440000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:23438600-23452600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:23438600-23461800	Enhancers	Brain Substantia Nigra	brain
31	chr22:23438800-23439800	Genic enhancers	Brain Inferior Temporal Lobe	brain
32	chr22:23438800-23440000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr22:23438800-23440600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:23438800-23441000	Weak transcription	Lung	lung
35	chr22:23438800-23443200	Enhancers	Brain Hippocampus Middle	brain
36	chr22:23438800-23446400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr22:23439000-23441000	Enhancers	Ovary	ovary
38	chr22:23439000-23442200	Genic enhancers	Brain Germinal Matrix	brain
39	chr22:23439000-23443200	Enhancers	Brain Anterior Caudate	brain
40	chr22:23439000-23446800	Enhancers	Brain Cingulate Gyrus	brain
41	chr22:23439000-23470400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:23439200-23444800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:23439400-23439800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr22:23439400-23440800	Genic enhancers	Fetal Brain Female	brain
45	chr22:23439600-23439800	Enhancers	Fetal Brain Male	brain
46	chr22:23439600-23440200	Genic enhancers	Gastric	stomach
47	chr22:23439600-23441000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr22:23439600-23445400	Enhancers	Fetal Muscle Leg	muscle
49	chr22:23439600-23445800	Enhancers	Spleen	Spleen
50	chr22:23439800-23440200	Weak transcription	Fetal Brain Male	brain

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