Variant report

Variant	esv1803191
Chromosome Location	chr22:23412017-23413130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:280)
CpG islands
(count:366)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:280 , 50 per page) page: 1 2 3 4 5 6

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	BACH1	chr22:23412007-23412324	K562	blood:	n/a	n/a
5	BACH1	chr22:23411960-23412460	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr22:23411634-23412526	K562	blood:	n/a	chr22:23411892-23411908 chr22:23412312-23412328
7	BHLHE40	chr22:23412734-23412776	K562	blood:	n/a	n/a
8	BHLHE40	chr22:23412225-23412668	GM12878	blood:	n/a	chr22:23412312-23412328
9	BRCA1	chr22:23412034-23412363	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr22:23411343-23412481	K562	blood:	n/a	n/a
11	CCNT2	chr22:23411812-23413487	K562	blood:	n/a	chr22:23412310-23412319 chr22:23413406-23413415
12	CEBPB	chr22:23411906-23412369	HepG2	liver:	n/a	n/a
13	CEBPB	chr22:23411888-23412379	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr22:23411921-23412298	K562	blood:	n/a	n/a
15	CEBPD	chr22:23412200-23412521	HepG2	liver:	n/a	n/a
16	CHD2	chr22:23412051-23412433	HepG2	liver:	n/a	chr22:23412265-23412275
17	CHD2	chr22:23412157-23412515	H1-hESC	embryonic stem cell:	n/a	chr22:23412265-23412275
18	CHD2	chr22:23412062-23412510	GM12878	blood:	n/a	chr22:23412265-23412275
19	CHD2	chr22:23411488-23412528	K562	blood:	n/a	chr22:23412265-23412275
20	CHD2	chr22:23411873-23412541	Hela-S3	cervix:	n/a	chr22:23412265-23412275
21	CHD2	chr22:23412736-23412928	K562	blood:	n/a	n/a
22	CREB1	chr22:23412131-23412791	A549	lung:	n/a	n/a
23	CREB1	chr22:23411877-23412605	HepG2	liver:	n/a	n/a
24	CTCF	chr22:23412269-23412577	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr22:23412405-23412539	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr22:23412140-23412290	NHEK	skin:	n/a	chr22:23412210-23412223
27	CTCF	chr22:23412400-23412550	GM12868	blood:	n/a	n/a
28	CTCF	chr22:23412340-23412490	GM12872	blood:	n/a	n/a
29	CTCF	chr22:23412140-23412290	HUVEC	blood vessel:	n/a	chr22:23412210-23412223
30	CTCF	chr22:23412460-23412480	GM19239	blood:	n/a	n/a
31	CTCF	chr22:23412220-23412490	GM12867	blood:	n/a	n/a
32	CTCF	chr22:23412340-23412490	AG04449	skin:	n/a	n/a
33	CTCF	chr22:23412740-23412890	AG04449	skin:	n/a	n/a
34	CTCF	chr22:23412121-23412192	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr22:23412430-23412515	GM19238	blood:	n/a	n/a
36	CTCF	chr22:23412460-23412505	GM19240	blood:	n/a	n/a
37	CTCF	chr22:23412380-23412530	GM12870	blood:	n/a	n/a
38	CTCF	chr22:23412180-23412330	GM12866	blood:	n/a	chr22:23412210-23412223
39	CTCF	chr22:23412425-23412485	GM12891	blood:	n/a	n/a
40	CTCF	chr22:23412457-23412508	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr22:23412360-23412510	GM12873	blood:	n/a	n/a
42	CTCF	chr22:23411997-23413141	K562	blood:	n/a	chr22:23413008-23413021 chr22:23412210-23412223 chr22:23413010-23413023
43	CTCF	chr22:23412335-23412544	GM12878	blood:	n/a	n/a
44	CTCF	chr22:23412220-23412370	GM12871	blood:	n/a	n/a
45	CTCF	chr22:23412440-23412590	GM12869	blood:	n/a	n/a
46	CTCF	chr22:23412100-23412250	K562	blood:	n/a	chr22:23412210-23412223
47	CTCF	chr22:23412454-23412482	GM10266	blood:	n/a	n/a
48	CTCF	chr22:23412191-23412460	K562	blood:	n/a	chr22:23412210-23412223
49	CTCF	chr22:23412800-23412950	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr22:23412403-23412476	GM13977	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23412814-23412864	HCF	heart:	n/a
2	chr22:23412381-23412431	U87	brain:	n/a
3	chr22:23412225-23412275	U87	brain:	n/a
4	chr22:23411986-23412036	Hepatocyte	liver:	n/a
5	chr22:23412408-23412458	T-47D	breast:	n/a
6	chr22:23412381-23412431	GM12892	blood:	n/a
7	chr22:23412225-23412275	HL-60	blood:	n/a
8	chr22:23412381-23412431	HRPEpiC	eye:	n/a
9	chr22:23413066-23413116	H1-hESC	embryonic stem cell:	embryo
10	chr22:23411986-23412036	HCT-116	colon:	n/a
11	chr22:23412408-23412458	HRPEpiC	eye:	n/a
12	chr22:23412408-23412458	HRCEpiC	kidney:	n/a
13	chr22:23412381-23412431	HRE	kidney:	n/a
14	chr22:23412225-23412275	H1-hESC	embryonic stem cell:	embryo
15	chr22:23412814-23412864	NT2-D1	testis:	n/a
16	chr22:23412814-23412864	NH-A	brain:	n/a
17	chr22:23412814-23412864	HEK293	kidney:	embryo
18	chr22:23411986-23412036	HCM	heart:	n/a
19	chr22:23411986-23412036	U87	brain:	n/a
20	chr22:23412381-23412431	PANC-1	pancreas:	n/a
21	chr22:23412408-23412458	Hela-S3	cervix:	n/a
22	chr22:23411986-23412036	BE2_C	brain:	n/a
23	chr22:23412381-23412431	AG09319	gingival:	n/a
24	chr22:23412381-23412431	BE2_C	brain:	n/a
25	chr22:23412225-23412275	HPAEpiC	pulmonary alveolar:	n/a
26	chr22:23412225-23412275	HCT-116	colon:	n/a
27	chr22:23412408-23412458	AG09309	skin:	n/a
28	chr22:23411986-23412036	LNCaP	prostate:	n/a
29	chr22:23413066-23413116	AG04449	skin:	fetal
30	chr22:23412408-23412458	PrEC	prostate:	n/a
31	chr22:23412408-23412458	NT2-D1	testis:	n/a
32	chr22:23412381-23412431	SAEC	small airway:	n/a
33	chr22:23411986-23412036	ovcar-3	ovarian:	n/a
34	chr22:23412814-23412864	BE2_C	brain:	n/a
35	chr22:23412814-23412864	T-47D	breast:	n/a
36	chr22:23411986-23412036	SKMC	muscle:	n/a
37	chr22:23411986-23412036	HRPEpiC	eye:	n/a
38	chr22:23412814-23412864	AG09319	gingival:	n/a
39	chr22:23412408-23412458	H1-hESC	embryonic stem cell:	embryo
40	chr22:23413066-23413116	HIPEpiC	eye:	n/a
41	chr22:23412814-23412864	ECC-1	luminal epithelium:	n/a
42	chr22:23412381-23412431	NT2-D1	testis:	n/a
43	chr22:23412225-23412275	BJ	skin:	n/a
44	chr22:23412814-23412864	SKMC	muscle:	n/a
45	chr22:23413066-23413116	NB4	blood:	n/a
46	chr22:23412408-23412458	HAEpiC	amniotic membrane:	n/a
47	chr22:23412814-23412864	GM12878	blood:	n/a
48	chr22:23412814-23412864	RPTEC	kidney:	n/a
49	chr22:23412408-23412458	Caco-2	colon:	n/a
50	chr22:23411986-23412036	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23410484..23412785-chr22:23485960..23488893,2	K562	blood:
2	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
ENSG00000100228	chromatin interactions
ENSG00000100218	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 208 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	rs562696431	chr22:23412820-23412821	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
34	rs531520050	chr22:23412840-23412841	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
35	rs542062345	chr22:23412868-23412869	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
36	rs561369849	chr22:23412883-23412884	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
37	rs567460002	chr22:23412899-23412900	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
38	rs368036183	chr22:23412942-23412943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs556224152	chr22:23412999-23413000	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs570255764	chr22:23413012-23413013	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533037301	chr22:23413022-23413023	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552505054	chr22:23413069-23413070	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371566132	chr22:23413089-23413090	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569385306	chr22:23413115-23413116	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	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
Ependymoma	20639864	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23411200-23412400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr22:23411400-23412200	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr22:23411400-23412200	Flanking Active TSS	Fetal Brain Male	brain
4	chr22:23411400-23412200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr22:23411400-23412200	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr22:23411600-23412200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr22:23411600-23412200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr22:23411600-23412200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:23411600-23412200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr22:23411600-23412200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr22:23411600-23412200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:23411600-23412200	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr22:23411600-23412200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr22:23411600-23412200	Flanking Active TSS	Right Ventricle	heart
15	chr22:23411600-23412200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr22:23411600-23412400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr22:23411600-23412400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:23411600-23413200	Enhancers	Fetal Heart	heart
19	chr22:23411600-23413600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr22:23411600-23413600	Active TSS	Colon Smooth Muscle	Colon
21	chr22:23411600-23413800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:23411800-23412200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:23411800-23412200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:23411800-23412200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr22:23411800-23412200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
29	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr22:23411800-23412200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr22:23411800-23412200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr22:23411800-23412200	Flanking Active TSS	Ovary	ovary
41	chr22:23411800-23412200	Flanking Active TSS	Pancreas	Pancrea
42	chr22:23411800-23412200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr22:23411800-23412200	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr22:23411800-23412200	Flanking Active TSS	HSMM	muscle
45	chr22:23411800-23412200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
46	chr22:23411800-23412200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr22:23411800-23412200	Flanking Active TSS	NHLF	lung
48	chr22:23411800-23412400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:23411800-23412400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:23411800-23412400	Flanking Active TSS	Adipose Nuclei	Adipose

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