Variant report

Variant	nsv914430
Chromosome Location	chr22:21431181-21465780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:869)
CpG islands
(count:0)
Chromatin interactive
region (count:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

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	chr22:21452454-21452781	K562	blood:	n/a	n/a
3	ARID3A	chr22:21456951-21457433	K562	blood:	n/a	n/a
4	ATF1	chr22:21447950-21448376	K562	blood:	n/a	n/a
5	ATF1	chr22:21456948-21457439	K562	blood:	n/a	n/a
6	ATF1	chr22:21454708-21455083	K562	blood:	n/a	n/a
7	ATF1	chr22:21452396-21452913	K562	blood:	n/a	n/a
8	ATF1	chr22:21459817-21459848	K562	blood:	n/a	n/a
9	ATF2	chr22:21457002-21457536	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr22:21456997-21457475	GM12878	blood:	n/a	n/a
11	ATF2	chr22:21457055-21457365	GM12878	blood:	n/a	n/a
12	ATF2	chr22:21456969-21457507	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr22:21456887-21457665	K562	blood:	n/a	n/a
14	ATF3	chr22:21456845-21457542	K562	blood:	n/a	n/a
15	BACH1	chr22:21454361-21454398	K562	blood:	n/a	n/a
16	BACH1	chr22:21462599-21463625	K562	blood:	n/a	n/a
17	BACH1	chr22:21457063-21457536	K562	blood:	n/a	n/a
18	BACH1	chr22:21457038-21457521	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr22:21462948-21463323	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCLAF1	chr22:21457085-21457352	GM12878	blood:	n/a	n/a
21	BHLHE40	chr22:21456903-21457481	K562	blood:	n/a	n/a
22	BHLHE40	chr22:21452444-21452669	K562	blood:	n/a	n/a
23	BHLHE40	chr22:21448023-21448312	K562	blood:	n/a	n/a
24	BRCA1	chr22:21457031-21457337	HepG2	liver:	n/a	n/a
25	CBX3	chr22:21452189-21452809	K562	blood:	n/a	n/a
26	CBX3	chr22:21452219-21452829	K562	blood:	n/a	n/a
27	CBX3	chr22:21456796-21457642	K562	blood:	n/a	n/a
28	CBX3	chr22:21456904-21457465	K562	blood:	n/a	n/a
29	CCNT2	chr22:21448114-21448229	K562	blood:	n/a	n/a
30	CCNT2	chr22:21463069-21463100	K562	blood:	n/a	n/a
31	CCNT2	chr22:21457069-21457499	K562	blood:	n/a	n/a
32	CEBPB	chr22:21447081-21447437	K562	blood:	n/a	chr22:21447262-21447275
33	CEBPB	chr22:21460358-21460613	HepG2	liver:	n/a	chr22:21460477-21460488
34	CEBPB	chr22:21444282-21444574	A549	lung:	n/a	n/a
35	CEBPB	chr22:21456952-21457490	K562	blood:	n/a	n/a
36	CEBPB	chr22:21457185-21457374	HepG2	liver:	n/a	n/a
37	CEBPB	chr22:21457134-21457455	K562	blood:	n/a	n/a
38	CEBPB	chr22:21444251-21444594	K562	blood:	n/a	n/a
39	CEBPB	chr22:21448007-21448208	K562	blood:	n/a	n/a
40	CEBPB	chr22:21457057-21457428	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr22:21460386-21460631	K562	blood:	n/a	chr22:21460477-21460488
42	CEBPB	chr22:21454362-21454820	MCF-7	breast:	n/a	n/a
43	CEBPB	chr22:21447281-21447361	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr22:21447263-21447283	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr22:21460401-21460595	A549	lung:	n/a	chr22:21460477-21460488
46	CEBPB	chr22:21444303-21444560	IMR90	lung:	n/a	n/a
47	CEBPB	chr22:21455111-21455178	IMR90	lung:	n/a	n/a
48	CEBPB	chr22:21455809-21456020	IMR90	lung:	n/a	n/a
49	CEBPB	chr22:21444259-21444588	HepG2	liver:	n/a	n/a
50	CEBPD	chr22:21447913-21448438	K562	blood:	n/a	n/a

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:21445296..21448389-chr22:21448613..21450723,3	K562	blood:
2	chr22:21382824..21385331-chr22:21454579..21456843,2	MCF-7	breast:
3	chr22:21354959..21358124-chr22:21432393..21434030,3	MCF-7	breast:
4	chr22:21272974..21274482-chr22:21453648..21456329,2	MCF-7	breast:
5	chr22:21336242..21338866-chr22:21453255..21455106,2	K562	blood:
6	chr22:21422859..21427453-chr22:21428543..21432939,6	K562	blood:
7	chr22:21436101..21438308-chr22:21441491..21444463,2	K562	blood:
8	chr22:21427307..21429775-chr22:21451659..21453902,2	K562	blood:
9	chr22:21436101..21438308-chr22:21441491..21444463,2	K562	blood:
10	chr22:21368793..21370356-chr22:21455117..21457274,2	K562	blood:
11	chr22:21433522..21434065-chr22:21457136..21457771,2	K562	blood:
12	chr22:21445053..21447572-chr22:21455705..21457230,2	K562	blood:
13	chr22:21367571..21370293-chr22:21455185..21457274,3	K562	blood:
14	chr22:21431214..21434190-chr22:21451363..21455420,3	K562	blood:
15	chr22:21354638..21358198-chr22:21455223..21459884,5	MCF-7	breast:
16	chr22:21440687..21442730-chr22:21443023..21445783,2	K562	blood:
17	chr22:21398617..21400230-chr22:21452490..21454260,2	K562	blood:
18	chr22:21394676..21396579-chr22:21432484..21435517,3	K562	blood:
19	chr22:21447333..21449666-chr22:21453179..21455036,3	K562	blood:
20	chr22:21419634..21422503-chr22:21431197..21433182,2	K562	blood:
21	chr22:21427520..21431698-chr22:21432126..21436010,5	K562	blood:
22	chr22:21427684..21429185-chr22:21441079..21443400,2	K562	blood:
23	chr22:21419927..21422503-chr22:21429993..21432697,2	K562	blood:
24	chr22:21334989..21337850-chr22:21456827..21459546,2	K562	blood:
25	chr22:21448752..21453745-chr22:21453926..21457234,4	MCF-7	breast:
26	chr22:21443711..21446922-chr22:21450828..21455317,4	K562	blood:
27	chr22:21442941..21445162-chr22:21452590..21455058,2	K562	blood:
28	chr22:21369240..21371713-chr22:21452349..21454093,2	K562	blood:
29	chr22:21333668..21339906-chr22:21442541..21446559,5	K562	blood:
30	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
31	chr22:21355227..21358354-chr22:21455605..21457626,3	K562	blood:
32	chr22:21335711..21339145-chr22:21445059..21447466,3	K562	blood:
33	chr22:21451265..21452805-chr22:21457465..21459683,2	K562	blood:
34	chr22:21369251..21370907-chr22:21430130..21432937,2	K562	blood:
35	chr22:21353014..21357310-chr22:21452902..21457294,6	MCF-7	breast:
36	chr22:21445053..21447572-chr22:21455705..21457230,2	K562	blood:
37	chr22:21270849..21272651-chr22:21455826..21458172,2	MCF-7	breast:
38	chr22:21270165..21272988-chr22:21455197..21456764,2	MCF-7	breast:
39	chr22:21440687..21442730-chr22:21443023..21445783,2	K562	blood:
40	chr22:21427520..21431698-chr22:21432126..21436010,5	K562	blood:
41	chr22:21431385..21433960-chr22:21448312..21450719,2	MCF-7	breast:
42	chr22:21443711..21446922-chr22:21450828..21455317,4	K562	blood:
43	chr22:21450378..21453014-chr22:21461236..21463100,2	K562	blood:
44	chr22:21431385..21433960-chr22:21448312..21450719,2	MCF-7	breast:
45	chr22:21450259..21452150-chr22:21453266..21455046,2	K562	blood:
46	chr22:21355019..21358979-chr22:21433564..21435999,3	K562	blood:
47	chr22:21314800..21316392-chr22:21454460..21457208,2	K562	blood:
48	chr22:21445296..21448389-chr22:21448613..21450723,3	K562	blood:
49	chr22:21450259..21452150-chr22:21453266..21455046,2	K562	blood:
50	chr22:21355602..21358079-chr22:21461383..21463245,2	MCF-7	breast:

No data

Variant related genes	Relation type
BCRP2	TF binding region
ENSG00000184436	chromatin interactions
ENSG00000183773	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000169668	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000249680	chromatin interactions
ENSG00000161149	chromatin interactions
ENSG00000206145	chromatin interactions
ENSG00000272829	chromatin interactions
ENSG00000099942	chromatin interactions
ENSG00000099957	chromatin interactions

Extended variants
information (count: 1483 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:1483 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs439792	chr22:21431181-21431182	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112440982	chr22:21431216-21431217	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2308105	chr22:21431217-21431218	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150284151	chr22:21431218-21431219	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201652984	chr22:21431221-21431222	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76350452	chr22:21431222-21431223	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535778821	chr22:21431246-21431247	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141362907	chr22:21431285-21431286	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560541071	chr22:21431286-21431287	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12628413	chr22:21431295-21431296	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534330516	chr22:21431344-21431345	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557525308	chr22:21431387-21431388	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373126463	chr22:21431448-21431449	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78051862	chr22:21431471-21431472	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536853016	chr22:21431473-21431474	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs151329657	chr22:21431476-21431477	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573968956	chr22:21431483-21431484	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140423187	chr22:21431484-21431485	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544127632	chr22:21431498-21431499	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559706816	chr22:21431542-21431543	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554114535	chr22:21431545-21431546	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112406136	chr22:21431562-21431563	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114462221	chr22:21431595-21431596	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs71314761	chr22:21431616-21431617	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71314762	chr22:21431627-21431628	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539894661	chr22:21431641-21431642	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369711467	chr22:21431666-21431667	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6417765	chr22:21431729-21431730	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6417766	chr22:21431744-21431745	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6519750	chr22:21431769-21431770	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111632442	chr22:21431782-21431783	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs73396433	chr22:21431794-21431795	Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549228435	chr22:21431822-21431823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566039226	chr22:21431831-21431832	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs150403255	chr22:21431849-21431850	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532017282	chr22:21431893-21431894	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111988699	chr22:21431908-21431909	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10571742	chr22:21431929-21431930	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111663980	chr22:21431993-21431994	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13057485	chr22:21432002-21432003	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs13054227	chr22:21432004-21432005	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs13057491	chr22:21432019-21432020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11912969	chr22:21432053-21432054	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368238524	chr22:21432073-21432074	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373803645	chr22:21432080-21432081	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs375083405	chr22:21432106-21432107	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556857641	chr22:21432118-21432119	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567441130	chr22:21432126-21432127	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547517725	chr22:21432154-21432155	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536466393	chr22:21432168-21432169	Weak transcription Strong transcription	Chromatin interactive region	2 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:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21427600-21435600	Strong transcription	Right Atrium	heart
2	chr22:21428600-21434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:21428800-21435000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:21429200-21431200	Weak transcription	HSMM	muscle
5	chr22:21429600-21431400	Enhancers	Placenta	Placenta
6	chr22:21429800-21431200	Enhancers	Fetal Muscle Trunk	muscle
7	chr22:21430600-21431600	Enhancers	Fetal Muscle Leg	muscle
8	chr22:21431000-21431200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:21431000-21431200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:21431000-21431200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:21431200-21431400	Enhancers	HSMM	muscle
12	chr22:21431200-21431800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr22:21431200-21433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:21431400-21431600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:21431600-21432600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:21431800-21434800	Weak transcription	Spleen	Spleen
17	chr22:21432600-21433800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:21433000-21433800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:21433000-21433800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:21434800-21435000	Bivalent Enhancer	Right Ventricle	heart
21	chr22:21434800-21435200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:21434800-21435600	Enhancers	Spleen	Spleen
23	chr22:21435000-21435200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:21435200-21435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:21435600-21457000	Weak transcription	Right Atrium	heart
26	chr22:21436600-21437000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:21447000-21449600	Enhancers	K562	blood
28	chr22:21447000-21449800	Enhancers	Fetal Intestine Small	intestine
29	chr22:21447200-21447400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:21447200-21448200	Enhancers	Pancreas	Pancrea
31	chr22:21447400-21447600	Enhancers	Fetal Intestine Large	intestine
32	chr22:21447600-21452400	Weak transcription	Fetal Intestine Large	intestine
33	chr22:21447800-21448400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:21448400-21449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:21448400-21454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:21449800-21452400	Weak transcription	Fetal Intestine Small	intestine
37	chr22:21452400-21452600	Enhancers	Fetal Intestine Large	intestine
38	chr22:21452400-21452600	Bivalent Enhancer	K562	blood
39	chr22:21452400-21452800	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr22:21452600-21453000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:21452800-21454200	Weak transcription	Fetal Intestine Small	intestine
42	chr22:21453000-21457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:21453600-21457000	Enhancers	Hela-S3	cervix
44	chr22:21454400-21454600	Bivalent Enhancer	Osteobl	bone
45	chr22:21454400-21455200	Enhancers	Placenta	Placenta
46	chr22:21454400-21455400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:21454400-21457400	Enhancers	NHDF-Ad	bronchial
48	chr22:21454400-21457600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:21454400-21457600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:21454400-21457600	Enhancers	NHLF	lung

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