Variant report

Variant	esv3324778
Chromosome Location	chr22:23411477-23414325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:308)
CpG islands
(count:492)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:308 , 50 per page) page: 1 2 3 4 5 6 7

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	ATF3	chr22:23410745-23412527	K562	blood:	n/a	chr22:23412290-23412299 chr22:23412264-23412273
3	ATF3	chr22:23412538-23413179	K562	blood:	n/a	chr22:23412615-23412635
4	ATF3	chr22:23413341-23414197	K562	blood:	n/a	n/a
5	BACH1	chr22:23412007-23412324	K562	blood:	n/a	n/a
6	BACH1	chr22:23411960-23412460	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr22:23412734-23412776	K562	blood:	n/a	n/a
8	BHLHE40	chr22:23411634-23412526	K562	blood:	n/a	chr22:23411892-23411908 chr22:23412312-23412328
9	BHLHE40	chr22:23412225-23412668	GM12878	blood:	n/a	chr22:23412312-23412328
10	BRCA1	chr22:23412034-23412363	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr22:23411343-23412481	K562	blood:	n/a	n/a
12	CCNT2	chr22:23411812-23413487	K562	blood:	n/a	chr22:23412310-23412319 chr22:23413406-23413415
13	CEBPB	chr22:23411906-23412369	HepG2	liver:	n/a	n/a
14	CEBPB	chr22:23411921-23412298	K562	blood:	n/a	n/a
15	CEBPB	chr22:23411888-23412379	Hela-S3	cervix:	n/a	n/a
16	CEBPD	chr22:23412200-23412521	HepG2	liver:	n/a	n/a
17	CHD2	chr22:23412157-23412515	H1-hESC	embryonic stem cell:	n/a	chr22:23412265-23412275
18	CHD2	chr22:23413813-23413954	HepG2	liver:	n/a	n/a
19	CHD2	chr22:23412736-23412928	K562	blood:	n/a	n/a
20	CHD2	chr22:23412062-23412510	GM12878	blood:	n/a	chr22:23412265-23412275
21	CHD2	chr22:23412051-23412433	HepG2	liver:	n/a	chr22:23412265-23412275
22	CHD2	chr22:23413218-23413726	K562	blood:	n/a	n/a
23	CHD2	chr22:23411873-23412541	Hela-S3	cervix:	n/a	chr22:23412265-23412275
24	CHD2	chr22:23411488-23412528	K562	blood:	n/a	chr22:23412265-23412275
25	CREB1	chr22:23412131-23412791	A549	lung:	n/a	n/a
26	CREB1	chr22:23411877-23412605	HepG2	liver:	n/a	n/a
27	CTCF	chr22:23412340-23412490	HEK293	kidney:	n/a	n/a
28	CTCF	chr22:23412430-23412515	GM19238	blood:	n/a	n/a
29	CTCF	chr22:23412100-23412250	K562	blood:	n/a	chr22:23412210-23412223
30	CTCF	chr22:23412400-23412550	GM12868	blood:	n/a	n/a
31	CTCF	chr22:23412343-23412514	IMR90	lung:	n/a	n/a
32	CTCF	chr22:23412335-23412544	GM12878	blood:	n/a	n/a
33	CTCF	chr22:23412440-23412590	GM12869	blood:	n/a	n/a
34	CTCF	chr22:23412360-23412510	GM12873	blood:	n/a	n/a
35	CTCF	chr22:23412220-23412490	GM12867	blood:	n/a	n/a
36	CTCF	chr22:23412420-23412570	GM12871	blood:	n/a	n/a
37	CTCF	chr22:23412220-23412370	GM12871	blood:	n/a	n/a
38	CTCF	chr22:23412460-23412505	GM19240	blood:	n/a	n/a
39	CTCF	chr22:23412419-23412542	Lung_OC	lung:	n/a	n/a
40	CTCF	chr22:23412140-23412290	NHEK	skin:	n/a	chr22:23412210-23412223
41	CTCF	chr22:23412454-23412482	GM10266	blood:	n/a	n/a
42	CTCF	chr22:23412269-23412577	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr22:23413220-23413370	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr22:23412340-23412490	AG04449	skin:	n/a	n/a
45	CTCF	chr22:23412460-23412610	GM12865	blood:	n/a	n/a
46	CTCF	chr22:23412121-23412192	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr22:23412380-23412530	GM12870	blood:	n/a	n/a
48	CTCF	chr22:23412460-23412480	GM19239	blood:	n/a	n/a
49	CTCF	chr22:23412180-23412330	GM12866	blood:	n/a	chr22:23412210-23412223
50	CTCF	chr22:23412405-23412539	Pancreas_OC	pancreas:	n/a	n/a

(count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23412381-23412431	AoSMC	blood vessel:	n/a
2	chr22:23412814-23412864	HPAEpiC	pulmonary alveolar:	n/a
3	chr22:23413260-23413310	AG09309	skin:	n/a
4	chr22:23412814-23412864	GM19239	blood:	n/a
5	chr22:23412381-23412431	AoSMC	blood vessel:	n/a
6	chr22:23412814-23412864	HPAEpiC	pulmonary alveolar:	n/a
7	chr22:23413260-23413310	AG09309	skin:	n/a
8	chr22:23412814-23412864	GM19239	blood:	n/a
9	chr22:23413260-23413310	LNCaP	prostate:	n/a
10	chr22:23412225-23412275	BJ	skin:	n/a
11	chr22:23411986-23412036	HRCEpiC	kidney:	n/a
12	chr22:23413066-23413116	HMEC	breast:	n/a
13	chr22:23413066-23413116	HCM	heart:	n/a
14	chr22:23413784-23413834	MCF10A-Er-Src	breast:	n/a
15	chr22:23412814-23412864	NB4	blood:	n/a
16	chr22:23412408-23412458	SK-N-SH	brain:	n/a
17	chr22:23411986-23412036	Jurkat	blood:	n/a
18	chr22:23413260-23413310	SKMC	muscle:	n/a
19	chr22:23411986-23412036	SK-N-SH	brain:	n/a
20	chr22:23413260-23413310	PANC-1	pancreas:	n/a
21	chr22:23413784-23413834	SK-N-SH	brain:	n/a
22	chr22:23413784-23413834	BE2_C	brain:	n/a
23	chr22:23412225-23412275	SK-N-SH	brain:	n/a
24	chr22:23412408-23412458	GM12891	blood:	n/a
25	chr22:23412381-23412431	PFSK-1	brain:	n/a
26	chr22:23413260-23413310	HRE	kidney:	n/a
27	chr22:23412408-23412458	HAEpiC	amniotic membrane:	n/a
28	chr22:23412814-23412864	HEEpiC	esophagus:	n/a
29	chr22:23413260-23413310	ovcar-3	ovarian:	n/a
30	chr22:23413066-23413116	AG04450	lung:	fetal
31	chr22:23412814-23412864	SK-N-SH	brain:	n/a
32	chr22:23413260-23413310	HMEC	breast:	n/a
33	chr22:23413066-23413116	HCPEpiC	choroid plexus:	n/a
34	chr22:23413260-23413310	HNPCEpiC	eye:	n/a
35	chr22:23411986-23412036	AG04449	skin:	fetal
36	chr22:23412225-23412275	LNCaP	prostate:	n/a
37	chr22:23412381-23412431	PrEC	prostate:	n/a
38	chr22:23413066-23413116	U87	brain:	n/a
39	chr22:23413784-23413834	GM12892	blood:	n/a
40	chr22:23413066-23413116	Caco-2	colon:	n/a
41	chr22:23412225-23412275	HAEpiC	amniotic membrane:	n/a
42	chr22:23412408-23412458	H1-hESC	embryonic stem cell:	embryo
43	chr22:23412814-23412864	GM12892	blood:	n/a
44	chr22:23411986-23412036	HEK293	kidney:	embryo
45	chr22:23412814-23412864	BJ	skin:	n/a
46	chr22:23413260-23413310	NH-A	brain:	n/a
47	chr22:23412381-23412431	SK-N-SH_RA	brain:	n/a
48	chr22:23413066-23413116	AG09309	skin:	n/a
49	chr22:23412814-23412864	HCPEpiC	choroid plexus:	n/a
50	chr22:23411986-23412036	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:23410484..23412785-chr22:23485960..23488893,2	K562	blood:
2	chr22:23411375..23413092-chr22:23413561..23415479,2	MCF-7	breast:
3	chr22:23413096..23416095-chr22:23416099..23417835,2	MCF-7	breast:

(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
ENSG00000100218	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000128266	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 208 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	rs553161871	chr22:23411817-23411818	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
16	rs573056175	chr22:23411833-23411834	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
17	rs539332979	chr22:23411928-23411929	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
18	rs559019881	chr22:23411996-23411997	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs3788337	chr22:23412017-23412018	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs9612226	chr22:23412049-23412050	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs3788338	chr22:23412058-23412059	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561324941	chr22:23412088-23412089	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs374469282	chr22:23412098-23412099	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs76641302	chr22:23412100-23412101	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368564620	chr22:23412126-23412127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs540682148	chr22:23412139-23412140	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs45608532	chr22:23412190-23412191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs532313243	chr22:23412193-23412194	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs367869568	chr22:23412220-23412221	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs184054959	chr22:23412222-23412223	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs531634551	chr22:23412226-23412227	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs547920590	chr22:23412234-23412235	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs567680476	chr22:23412258-23412259	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188446441	chr22:23412278-23412279	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs572736817	chr22:23412336-23412337	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs570194406	chr22:23412370-23412371	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs530661111	chr22:23412390-23412391	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs371921422	chr22:23412393-23412394	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs559100518	chr22:23412414-23412415	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs569490501	chr22:23412428-23412429	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs538490171	chr22:23412437-23412438	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs180957154	chr22:23412446-23412447	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs574856830	chr22:23412489-23412490	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587597964	chr22:23412533-23412534	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs885961	chr22:23412604-23412605	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs554342528	chr22:23412669-23412670	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549891937	chr22:23412699-23412700	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs577246591	chr22:23412705-23412706	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201366455	chr22:23412786-23412787	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
50	rs545726926	chr22:23412814-23412815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	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
Ependymoma	20639864	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23400800-23411600	Strong transcription	Right Atrium	heart
2	chr22:23409200-23411800	Enhancers	Left Ventricle	heart
3	chr22:23410000-23411600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr22:23410200-23411600	Enhancers	Right Ventricle	heart
5	chr22:23410200-23411600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr22:23410400-23411800	Weak transcription	Primary B cells from cord blood	blood
7	chr22:23410800-23411800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:23411000-23411600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:23411000-23411600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:23411000-23411600	Enhancers	Brain Cingulate Gyrus	brain
11	chr22:23411200-23411600	Enhancers	Brain Germinal Matrix	brain
12	chr22:23411200-23411600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr22:23411200-23411600	Enhancers	Fetal Brain Female	brain
14	chr22:23411200-23412000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr22:23411200-23412000	Enhancers	Gastric	stomach
16	chr22:23411200-23412000	Enhancers	Spleen	Spleen
17	chr22:23411200-23412400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr22:23411400-23411600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr22:23411400-23411600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:23411400-23411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:23411400-23411600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:23411400-23411600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:23411400-23411600	Enhancers	Brain Substantia Nigra	brain
24	chr22:23411400-23411800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:23411400-23411800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:23411400-23411800	Enhancers	Adipose Nuclei	Adipose
27	chr22:23411400-23411800	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr22:23411400-23411800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr22:23411400-23411800	Enhancers	Fetal Kidney	kidney
30	chr22:23411400-23411800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr22:23411400-23411800	Enhancers	Pancreas	Pancrea
32	chr22:23411400-23411800	Flanking Active TSS	Hela-S3	cervix
33	chr22:23411400-23412000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:23411400-23412000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr22:23411400-23412000	Enhancers	Lung	lung
36	chr22:23411400-23412200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr22:23411400-23412200	Flanking Active TSS	Fetal Brain Male	brain
38	chr22:23411400-23412200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr22:23411400-23412200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr22:23411600-23411800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr22:23411600-23411800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr22:23411600-23411800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr22:23411600-23411800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:23411600-23411800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr22:23411600-23411800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr22:23411600-23411800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr22:23411600-23411800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:23411600-23411800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:23411600-23411800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:23411600-23411800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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