Variant report

Variant	nsv588308
Chromosome Location	chr22:21456518-21465780
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	ARID3A	chr22:21462458-21463637	K562	blood:	n/a	n/a
2	ARID3A	chr22:21456951-21457433	K562	blood:	n/a	n/a
3	ATF1	chr22:21456948-21457439	K562	blood:	n/a	n/a
4	ATF1	chr22:21459817-21459848	K562	blood:	n/a	n/a
5	ATF2	chr22:21456969-21457507	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr22:21457002-21457536	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr22:21456997-21457475	GM12878	blood:	n/a	n/a
8	ATF2	chr22:21457055-21457365	GM12878	blood:	n/a	n/a
9	ATF3	chr22:21456887-21457665	K562	blood:	n/a	n/a
10	ATF3	chr22:21456845-21457542	K562	blood:	n/a	n/a
11	BACH1	chr22:21457063-21457536	K562	blood:	n/a	n/a
12	BACH1	chr22:21462599-21463625	K562	blood:	n/a	n/a
13	BACH1	chr22:21457038-21457521	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr22:21462948-21463323	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCLAF1	chr22:21457085-21457352	GM12878	blood:	n/a	n/a
16	BHLHE40	chr22:21456903-21457481	K562	blood:	n/a	n/a
17	BRCA1	chr22:21457031-21457337	HepG2	liver:	n/a	n/a
18	CBX3	chr22:21456796-21457642	K562	blood:	n/a	n/a
19	CBX3	chr22:21456904-21457465	K562	blood:	n/a	n/a
20	CCNT2	chr22:21457069-21457499	K562	blood:	n/a	n/a
21	CCNT2	chr22:21463069-21463100	K562	blood:	n/a	n/a
22	CEBPB	chr22:21457134-21457455	K562	blood:	n/a	n/a
23	CEBPB	chr22:21460386-21460631	K562	blood:	n/a	chr22:21460477-21460488
24	CEBPB	chr22:21460401-21460595	A549	lung:	n/a	chr22:21460477-21460488
25	CEBPB	chr22:21456952-21457490	K562	blood:	n/a	n/a
26	CEBPB	chr22:21460358-21460613	HepG2	liver:	n/a	chr22:21460477-21460488
27	CEBPB	chr22:21457057-21457428	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr22:21457185-21457374	HepG2	liver:	n/a	n/a
29	CHD2	chr22:21456966-21457406	K562	blood:	n/a	n/a
30	CREB1	chr22:21457072-21457483	A549	lung:	n/a	n/a
31	CTBP2	chr22:21456862-21457481	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr22:21458560-21458710	HEK293	kidney:	n/a	n/a
33	CTCF	chr22:21458500-21458650	HRE	kidney:	n/a	n/a
34	CTCF	chr22:21458060-21458210	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr22:21457098-21457457	MCF-7	breast:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
36	CTCF	chr22:21456928-21457663	HCT-116	colon:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
37	CTCF	chr22:21458480-21458630	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr22:21457149-21457404	T-47D	breast:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
39	CTCF	chr22:21457146-21457426	LNCaP	prostate:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
40	CTCF	chr22:21458597-21458639	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr22:21457220-21457370	HAc	cerebellar:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
42	CTCF	chr22:21457200-21457350	HEEpiC	esophagus:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
43	CTCF	chr22:21458520-21458670	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr22:21457220-21457370	BJ	skin:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
45	CTCF	chr22:21457200-21457350	HAc	cerebellar:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
46	CTCF	chr22:21458420-21458650	RPTEC	kidney:	n/a	n/a
47	CTCF	chr22:21457180-21457330	RPTEC	kidney:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
48	CTCF	chr22:21458520-21458670	AG09309	skin:	n/a	n/a
49	CTCF	chr22:21457160-21457310	MCF-7	breast:	n/a	chr22:21457254-21457264 chr22:21457249-21457267 chr22:21457251-21457272 chr22:21457250-21457266
50	CTCF	chr22:21458540-21458690	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21368793..21370356-chr22:21455117..21457274,2	K562	blood:
2	chr22:21367571..21370293-chr22:21455185..21457274,3	K562	blood:
3	chr22:21382824..21385331-chr22:21454579..21456843,2	MCF-7	breast:
4	chr22:21348532..21350685-chr22:21453924..21456734,2	K562	blood:
5	chr22:21354638..21358198-chr22:21455223..21459884,5	MCF-7	breast:
6	chr22:21270849..21272651-chr22:21455826..21458172,2	MCF-7	breast:
7	chr22:21356384..21358791-chr22:21460678..21463188,2	K562	blood:
8	chr22:21334989..21337850-chr22:21456827..21459546,2	K562	blood:
9	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
10	chr22:21355602..21358079-chr22:21461383..21463245,2	MCF-7	breast:
11	chr22:21450378..21453014-chr22:21461236..21463100,2	K562	blood:
12	chr22:21353014..21357310-chr22:21452902..21457294,6	MCF-7	breast:
13	chr22:21270165..21272988-chr22:21455197..21456764,2	MCF-7	breast:
14	chr22:21355227..21358354-chr22:21455605..21457626,3	K562	blood:
15	chr22:21448752..21453745-chr22:21453926..21457234,4	MCF-7	breast:
16	chr22:21445053..21447572-chr22:21455705..21457230,2	K562	blood:
17	chr22:21314800..21316392-chr22:21454460..21457208,2	K562	blood:
18	chr22:21451265..21452805-chr22:21457465..21459683,2	K562	blood:
19	chr22:21321706..21322599-chr22:21456736..21457719,2	K562	blood:

Variant related genes	Relation type
BCRP2	TF binding region
ENSG00000272829	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000099957	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000099942	chromatin interactions
ENSG00000183773	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000161149	chromatin interactions

Extended variants
information (count: 351 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10483105	chr22:21456518-21456519	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554431305	chr22:21456522-21456523	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs548406410	chr22:21456531-21456532	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs574357899	chr22:21456561-21456562	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs144400939	chr22:21456568-21456569	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs75332019	chr22:21456656-21456657	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs568250790	chr22:21456660-21456661	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs78621282	chr22:21456673-21456674	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs193059648	chr22:21456760-21456761	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs372145481	chr22:21456780-21456781	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs185475605	chr22:21456790-21456791	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs188346646	chr22:21456853-21456854	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs192933416	chr22:21456902-21456903	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs146623269	chr22:21456975-21456976	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs117562642	chr22:21457030-21457031	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs566420615	chr22:21457134-21457135	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs538294264	chr22:21457147-21457148	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs552243862	chr22:21457150-21457151	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs568648825	chr22:21457167-21457168	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs527613596	chr22:21457182-21457183	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs547053322	chr22:21457207-21457208	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs184556148	chr22:21457216-21457217	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs554316981	chr22:21457275-21457276	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs188240558	chr22:21457283-21457284	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs180720161	chr22:21457287-21457288	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs183569939	chr22:21457292-21457293	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs189423621	chr22:21457306-21457307	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs375458418	chr22:21457311-21457312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs369605042	chr22:21457319-21457320	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs570481279	chr22:21457357-21457358	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs545100332	chr22:21457365-21457366	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs61744393	chr22:21457385-21457386	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs575772815	chr22:21457520-21457521	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs539495478	chr22:21457542-21457543	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs556294027	chr22:21457564-21457565	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs373217305	chr22:21457591-21457592	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs569782965	chr22:21457623-21457624	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs433457	chr22:21457646-21457647	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs182084859	chr22:21457702-21457703	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs2543395	chr22:21457703-21457704	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs78008352	chr22:21457706-21457707	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs2519456	chr22:21457707-21457708	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs369967627	chr22:21457711-21457712	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs547260096	chr22:21457728-21457729	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs560666567	chr22:21457794-21457795	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs187127325	chr22:21457797-21457798	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs551856334	chr22:21457805-21457806	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs568536829	chr22:21457832-21457833	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs550157626	chr22:21457854-21457855	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs539201076	chr22:21457877-21457878	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:230)

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
Lung cancer	18438408	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
Acute lymphoblastic leukemia	19100363	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	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
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	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
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21435600-21457000	Weak transcription	Right Atrium	heart
2	chr22:21453000-21457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr22:21453600-21457000	Enhancers	Hela-S3	cervix
4	chr22:21454400-21457400	Enhancers	NHDF-Ad	bronchial
5	chr22:21454400-21457600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:21454400-21457600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:21454400-21457600	Enhancers	NHLF	lung
8	chr22:21454600-21457000	Enhancers	Osteobl	bone
9	chr22:21454800-21457000	Enhancers	A549	lung
10	chr22:21454800-21457200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:21454800-21457400	Enhancers	HMEC	breast
12	chr22:21454800-21457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:21454800-21457600	Enhancers	HSMM	muscle
14	chr22:21454800-21457600	Enhancers	NH-A	brain
15	chr22:21455000-21457200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:21455000-21457600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr22:21455000-21457600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:21455200-21457600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:21455400-21457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:21455800-21457000	Weak transcription	Placenta	Placenta
21	chr22:21455800-21457200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr22:21456000-21457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:21456000-21457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:21456000-21457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:21456200-21456800	Enhancers	Fetal Thymus	thymus
26	chr22:21456200-21457000	Bivalent Enhancer	K562	blood
27	chr22:21456200-21457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:21456400-21457400	Weak transcription	NHEK	skin
29	chr22:21456800-21457000	Enhancers	Brain Cingulate Gyrus	brain
30	chr22:21456800-21457000	Enhancers	Brain Hippocampus Middle	brain
31	chr22:21456800-21457000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr22:21456800-21457000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:21456800-21457200	Weak transcription	Fetal Thymus	thymus
34	chr22:21456800-21457600	Enhancers	Primary T cells from cord blood	blood
35	chr22:21457000-21457200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:21457000-21457200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:21457000-21457200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr22:21457000-21457200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr22:21457000-21457200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:21457000-21457200	Enhancers	Brain Anterior Caudate	brain
41	chr22:21457000-21457200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr22:21457000-21457200	Bivalent Enhancer	Fetal Kidney	kidney
43	chr22:21457000-21457200	Enhancers	Right Ventricle	heart
44	chr22:21457000-21457200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr22:21457000-21457200	Bivalent Enhancer	Thymus	Thymus
46	chr22:21457000-21457200	Flanking Active TSS	A549	lung
47	chr22:21457000-21457200	Flanking Bivalent TSS/Enh	K562	blood
48	chr22:21457000-21457400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:21457000-21457400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr22:21457000-21457400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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