Variant report

Variant	nsv914584
Chromosome Location	chr22:23729698-23774625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr22:23744648-23745063	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr22:23746888-23747212	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr22:23767816-23768461	GM12878	blood:	n/a	n/a
4	BATF	chr22:23768066-23768391	GM12878	blood:	n/a	n/a
5	BCL11A	chr22:23768017-23768343	GM12878	blood:	n/a	n/a
6	BCL11A	chr22:23767732-23768425	GM12878	blood:	n/a	chr22:23767902-23767911
7	BHLHE40	chr22:23744958-23745145	GM12878	blood:	n/a	chr22:23745054-23745070
8	BHLHE40	chr22:23745003-23745056	K562	blood:	n/a	n/a
9	BHLHE40	chr22:23744217-23744314	K562	blood:	n/a	n/a
10	BHLHE40	chr22:23773469-23773794	K562	blood:	n/a	n/a
11	CBX3	chr22:23773490-23773804	K562	blood:	n/a	n/a
12	CCNT2	chr22:23744595-23745201	K562	blood:	n/a	n/a
13	CCNT2	chr22:23744248-23744361	K562	blood:	n/a	chr22:23744349-23744358
14	CEBPB	chr22:23751475-23751656	A549	lung:	n/a	chr22:23751565-23751576
15	CEBPB	chr22:23751529-23751639	H1-hESC	embryonic stem cell:	n/a	chr22:23751565-23751576
16	CEBPB	chr22:23751463-23751673	HepG2	liver:	n/a	chr22:23751565-23751576
17	CEBPB	chr22:23773733-23773799	HepG2	liver:	n/a	n/a
18	CEBPB	chr22:23766991-23767216	HepG2	liver:	n/a	chr22:23767057-23767068
19	CEBPB	chr22:23751439-23751687	IMR90	lung:	n/a	chr22:23751565-23751576
20	CEBPB	chr22:23743400-23743695	IMR90	lung:	n/a	n/a
21	CHD2	chr22:23773688-23773725	HepG2	liver:	n/a	n/a
22	CHD2	chr22:23747083-23747102	HepG2	liver:	n/a	n/a
23	CHD2	chr22:23744988-23745147	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr22:23744835-23745161	A549	lung:	n/a	n/a
25	CTBP2	chr22:23744287-23745184	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr22:23744960-23745110	AG04450	lung:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
27	CTCF	chr22:23744854-23745194	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
28	CTCF	chr22:23744980-23745130	HRE	kidney:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
29	CTCF	chr22:23744960-23745110	AoAF	blood vessel:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
30	CTCF	chr22:23744939-23745169	GM13976	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
31	CTCF	chr22:23744980-23745130	HMEC	breast:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
32	CTCF	chr22:23744960-23745110	GM12801	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
33	CTCF	chr22:23744848-23745186	NHEK	skin:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
34	CTCF	chr22:23744960-23745110	AG04449	skin:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
35	CTCF	chr22:23744980-23745130	NHLF	lung:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
36	CTCF	chr22:23744896-23745161	SK-N-SH_RA	brain:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
37	CTCF	chr22:23744864-23745195	GM19238	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
38	CTCF	chr22:23744660-23744810	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr22:23763557-23763634	H1-hESC	embryonic stem cell:	n/a	chr22:23763604-23763617 chr22:23763604-23763613
40	CTCF	chr22:23744960-23745110	HEEpiC	esophagus:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
41	CTCF	chr22:23744940-23745090	GM12864	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
42	CTCF	chr22:23745000-23745150	GM06990	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
43	CTCF	chr22:23745000-23745150	A549	lung:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
44	CTCF	chr22:23744980-23745130	NHEK	skin:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
45	CTCF	chr22:23744878-23745182	K562	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
46	CTCF	chr22:23744940-23745090	HEK293	kidney:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
47	CTCF	chr22:23730784-23730858	H1-hESC	embryonic stem cell:	n/a	chr22:23730813-23730831 chr22:23730815-23730828
48	CTCF	chr22:23744421-23745490	SK-N-SH	brain:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
49	CTCF	chr22:23745020-23745170	HFF	foreskin:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
50	CTCF	chr22:23745080-23745230	NHDF-neo	bronchial:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23744725-23744775	GM12891	blood:	n/a
2	chr22:23744725-23744775	GM12891	blood:	n/a
3	chr22:23745076-23745126	RPTEC	kidney:	n/a
4	chr22:23745131-23745181	SK-N-MC	brain:	n/a
5	chr22:23744094-23744144	PFSK-1	brain:	n/a
6	chr22:23730507-23730557	GM06990	blood:	n/a
7	chr22:23745389-23745439	HRPEpiC	eye:	n/a
8	chr22:23744725-23744775	Hela-S3	cervix:	n/a
9	chr22:23744717-23744767	HepG2	liver:	n/a
10	chr22:23744725-23744775	AoSMC	blood vessel:	n/a
11	chr22:23730283-23730333	MCF10A-Er-Src	breast:	n/a
12	chr22:23732191-23732241	GM12878	blood:	n/a
13	chr22:23730507-23730557	AG10803	skin:	n/a
14	chr22:23745389-23745439	Hepatocyte	liver:	n/a
15	chr22:23744717-23744767	HL-60	blood:	n/a
16	chr22:23745389-23745439	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:23744928-23744978	SK-N-SH_RA	brain:	n/a
18	chr22:23744717-23744767	LNCaP	prostate:	n/a
19	chr22:23745389-23745439	AG09319	gingival:	n/a
20	chr22:23745389-23745439	NT2-D1	testis:	n/a
21	chr22:23744725-23744775	IMR90	lung:	fetal
22	chr22:23744094-23744144	BJ	skin:	n/a
23	chr22:23730283-23730333	AG09319	gingival:	n/a
24	chr22:23745131-23745181	HepG2	liver:	n/a
25	chr22:23744928-23744978	MCF-7	breast:	n/a
26	chr22:23744717-23744767	HPAEpiC	pulmonary alveolar:	n/a
27	chr22:23732191-23732241	HNPCEpiC	eye:	n/a
28	chr22:23744725-23744775	PrEC	prostate:	n/a
29	chr22:23744717-23744767	SK-N-SH	brain:	n/a
30	chr22:23732191-23732241	HCPEpiC	choroid plexus:	n/a
31	chr22:23730283-23730333	GM12891	blood:	n/a
32	chr22:23744717-23744767	GM12878	blood:	n/a
33	chr22:23730507-23730557	NHDF-neo	bronchial:	n/a
34	chr22:23733812-23733862	SK-N-SH	brain:	n/a
35	chr22:23745076-23745126	Jurkat	blood:	n/a
36	chr22:23744717-23744767	T-47D	breast:	n/a
37	chr22:23730283-23730333	NT2-D1	testis:	n/a
38	chr22:23732191-23732241	AoSMC	blood vessel:	n/a
39	chr22:23744725-23744775	AG04450	lung:	fetal
40	chr22:23730507-23730557	HepG2	liver:	n/a
41	chr22:23732191-23732241	SK-N-SH	brain:	n/a
42	chr22:23730507-23730557	RPTEC	kidney:	n/a
43	chr22:23744928-23744978	HEEpiC	esophagus:	n/a
44	chr22:23745389-23745439	Jurkat	blood:	n/a
45	chr22:23730283-23730333	NB4	blood:	n/a
46	chr22:23730283-23730333	SK-N-MC	brain:	n/a
47	chr22:23745389-23745439	GM12892	blood:	n/a
48	chr22:23745389-23745439	GM19239	blood:	n/a
49	chr22:23732191-23732241	PFSK-1	brain:	n/a
50	chr22:23733812-23733862	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:23770302..23775681-chr7:1914349..1918723,8	MCF-7	breast:
2	chr22:23769141..23771372-chr22:23773918..23775518,2	MCF-7	breast:
3	chr22:20255172..20256299-chr22:23744215..23745345,10	MCF-7	breast:
4	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
5	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
6	chr22:23771574..23774271-chr7:1915104..1916676,2	K562	blood:
7	chr22:23767599..23770526-chr22:23770883..23773096,2	K562	blood:
8	chr22:20255195..20256295-chr22:23744242..23744859,6	MCF-7	breast:
9	chr22:20255429..20256076-chr22:23744719..23745345,6	K562	blood:
10	chr22:20255641..20256294-chr22:23744242..23744784,3	Hela-S3	cervix:
11	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:
12	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
13	chr22:20255317..20256206-chr22:23744235..23745365,12	HCT-116	colon:
14	chr22:23771574..23774271-chr7:1915099..1916676,3	K562	blood:
15	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
16	chr22:23769141..23771372-chr22:23773918..23775518,2	MCF-7	breast:
17	chr22:23772556..23774777-chr7:1920577..1922999,2	K562	blood:
18	chr22:20255555..20256232-chr22:23744733..23745268,3	MCF-7	breast:
19	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
20	chr22:23733508..23735532-chr22:23736840..23739183,2	MCF-7	breast:
21	chr22:23767599..23770526-chr22:23770883..23773096,2	K562	blood:
22	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
23	chr22:23773942..23774594-chr7:1915027..1915991,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-4	chr22:23740265-23740293	NONHSAT083882
2	lnc-IGLL1-4	chr22:23732833-23733911	NONHSAT083880
3	lnc-IGLL1-4	chr22:23734772-23735020	NONHSAT083882
4	lnc-IGLL1-4	chr22:23741771-23741795	NONHSAT083882
5	lnc-IGLL1-4	chr22:23734914-23735064	NONHSAT083880
6	lnc-IGLL1-4	chr22:23736113-23736244	NONHSAT083882

Variant related genes	Relation type
CES5AP1	TF binding region
ENSG00000234928	TF binding region
ZDHHC8P1	TF binding region
ENSG00000248409	TF binding region
CES5AP1	CpG island
ENSG00000234928	CpG island
ZDHHC8P1	CpG island
ENSG00000248409	CpG island
ENSG00000040608	chromatin interactions
ENSG00000248409	chromatin interactions

Extended variants
information (count: 2365 )
Associated
traits (count: 213 )

Variant overlapped rSNPs/rCNVs (count:2365 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4822392	chr22:23729698-23729699	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531252505	chr22:23729834-23729835	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145896636	chr22:23729876-23729877	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369536098	chr22:23729877-23729878	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187624427	chr22:23729947-23729948	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148178749	chr22:23729959-23729960	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73392635	chr22:23730042-23730043	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs538638349	chr22:23730045-23730046	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs558923140	chr22:23730059-23730060	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs575419496	chr22:23730079-23730080	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs544496800	chr22:23730084-23730085	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs554302481	chr22:23730113-23730114	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs574281856	chr22:23730123-23730124	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs142002859	chr22:23730133-23730134	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs61288881	chr22:23730149-23730150	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs559794156	chr22:23730151-23730152	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs150623791	chr22:23730271-23730272	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs545449376	chr22:23730284-23730285	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
19	rs369443320	chr22:23730291-23730292	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
20	rs531067333	chr22:23730300-23730301	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
21	rs551307911	chr22:23730314-23730315	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
22	rs568003824	chr22:23730317-23730318	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
23	rs530315945	chr22:23730344-23730345	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs7287011	chr22:23730370-23730371	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566814981	chr22:23730383-23730384	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs539143224	chr22:23730416-23730417	Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs10583578	chr22:23730427-23730428	Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs9612341	chr22:23730445-23730446	Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200277295	chr22:23730449-23730450	Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs537887467	chr22:23730470-23730471	Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs554439683	chr22:23730498-23730499	Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs564299824	chr22:23730525-23730526	Weak transcription Genic enhancers Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs375665874	chr22:23730539-23730540	Weak transcription Genic enhancers Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs540023334	chr22:23730557-23730558	Weak transcription Genic enhancers Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs553566728	chr22:23730565-23730566	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576837674	chr22:23730575-23730576	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199599450	chr22:23730589-23730590	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10583579	chr22:23730594-23730595	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199798921	chr22:23730595-23730596	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545887879	chr22:23730617-23730618	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6003675	chr22:23730626-23730627	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562572113	chr22:23730641-23730642	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7285485	chr22:23730660-23730661	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7285494	chr22:23730676-23730677	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs60266652	chr22:23730690-23730691	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs547185261	chr22:23730719-23730720	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7287337	chr22:23730734-23730735	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532458760	chr22:23730747-23730748	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370691929	chr22:23730779-23730780	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569298007	chr22:23730795-23730796	Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:213)

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
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
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23725400-23736800	Weak transcription	Fetal Brain Female	brain
2	chr22:23726200-23729800	Weak transcription	Spleen	Spleen
3	chr22:23726400-23734600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:23726600-23730000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:23726600-23731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:23726800-23731400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:23726800-23733200	Weak transcription	Lung	lung
8	chr22:23726800-23739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:23726800-23744200	Weak transcription	Brain Anterior Caudate	brain
10	chr22:23727400-23731200	Weak transcription	Fetal Intestine Small	intestine
11	chr22:23727800-23730800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:23728200-23731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:23728600-23730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:23728600-23730800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:23728600-23733800	Weak transcription	Ovary	ovary
16	chr22:23728600-23744200	Weak transcription	Brain Angular Gyrus	brain
17	chr22:23728600-23744200	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:23728800-23730000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:23728800-23738400	Weak transcription	Fetal Thymus	thymus
20	chr22:23729200-23730000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr22:23729200-23730400	Strong transcription	Brain Germinal Matrix	brain
22	chr22:23729800-23731000	Enhancers	Spleen	Spleen
23	chr22:23730000-23730200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:23730000-23730200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr22:23730000-23730400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:23730000-23731000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:23730000-23731600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:23730200-23731800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:23730400-23731600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:23730400-23733800	Weak transcription	Brain Germinal Matrix	brain
31	chr22:23730800-23731400	Enhancers	HepG2	liver
32	chr22:23730800-23731600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:23730800-23732000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:23731000-23733200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:23731200-23731800	Enhancers	Fetal Intestine Small	intestine
36	chr22:23731200-23732000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr22:23731200-23732200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:23731400-23731600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:23731400-23731800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:23731400-23732000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr22:23731400-23732000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:23731400-23732000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr22:23731400-23732000	Enhancers	Fetal Intestine Large	intestine
44	chr22:23731400-23732000	Flanking Active TSS	HepG2	liver
45	chr22:23731600-23731800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr22:23731600-23732000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:23731600-23732000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:23731800-23732000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:23731800-23732200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:23731800-23739000	Weak transcription	Fetal Intestine Small	intestine

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