Variant report

Variant	nsv914585
Chromosome Location	chr22:23793801-23849044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:575)
CpG islands
(count:366)
Chromatin interactive
region (count:4)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23810108-23810480	HepG2	liver:	n/a	n/a
2	BATF	chr22:23815225-23815371	GM12878	blood:	n/a	n/a
3	BATF	chr22:23827789-23828067	GM12878	blood:	n/a	n/a
4	BATF	chr22:23817542-23817698	GM12878	blood:	n/a	n/a
5	BATF	chr22:23814219-23814432	GM12878	blood:	n/a	n/a
6	BATF	chr22:23827783-23828060	GM12878	blood:	n/a	n/a
7	BATF	chr22:23819974-23820417	GM12878	blood:	n/a	n/a
8	BATF	chr22:23828883-23829053	GM12878	blood:	n/a	n/a
9	BCL11A	chr22:23819918-23820441	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:23827775-23828065	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:23820122-23820430	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:23827797-23828034	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:23828873-23829061	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:23814796-23814963	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:23814300-23814538	GM12878	blood:	n/a	n/a
16	BHLHE40	chr22:23810151-23810450	HepG2	liver:	n/a	n/a
17	BHLHE40	chr22:23800642-23800955	HepG2	liver:	n/a	n/a
18	BHLHE40	chr22:23810125-23810453	HepG2	liver:	n/a	n/a
19	BHLHE40	chr22:23810674-23810961	HepG2	liver:	n/a	n/a
20	BHLHE40	chr22:23810980-23811147	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:23828739-23829217	HepG2	liver:	n/a	n/a
22	BHLHE40	chr22:23827779-23827957	HepG2	liver:	n/a	n/a
23	CEBPB	chr22:23840133-23840432	HepG2	liver:	n/a	chr22:23840256-23840267
24	CEBPB	chr22:23840234-23840346	Hela-S3	cervix:	n/a	chr22:23840256-23840267
25	CEBPB	chr22:23829922-23829928	A549	lung:	n/a	n/a
26	CEBPB	chr22:23840128-23840423	IMR90	lung:	n/a	chr22:23840256-23840267
27	CEBPB	chr22:23814003-23814182	HepG2	liver:	n/a	n/a
28	CEBPB	chr22:23840138-23840428	A549	lung:	n/a	chr22:23840256-23840267
29	CEBPB	chr22:23805382-23805445	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr22:23817889-23818034	HepG2	liver:	n/a	chr22:23817946-23817957
31	CEBPB	chr22:23840135-23840380	H1-hESC	embryonic stem cell:	n/a	chr22:23840256-23840267
32	CHD2	chr22:23825339-23825347	GM12878	blood:	n/a	n/a
33	CTCF	chr22:23827860-23827974	Gliobla	brain:	n/a	n/a
34	CTCF	chr22:23810440-23810590	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr22:23827867-23828013	LNCaP	prostate:	n/a	n/a
36	CTCF	chr22:23836535-23836620	HepG2	liver:	n/a	chr22:23836581-23836599
37	CTCF	chr22:23828908-23829070	GM10248	blood:	n/a	n/a
38	CTCF	chr22:23827867-23828004	GM10266	blood:	n/a	n/a
39	CTCF	chr22:23841906-23842011	GM19239	blood:	n/a	n/a
40	CTCF	chr22:23836519-23836655	MCF-7	breast:	n/a	chr22:23836581-23836599
41	CTCF	chr22:23843948-23843982	NHEK	skin:	n/a	n/a
42	CTCF	chr22:23827868-23828017	LNCaP	prostate:	n/a	n/a
43	CTCF	chr22:23803069-23803097	GM12891	blood:	n/a	n/a
44	CTCF	chr22:23827858-23827895	GM12892	blood:	n/a	n/a
45	CTCF	chr22:23827837-23827917	A549	lung:	n/a	n/a
46	CTCF	chr22:23836568-23836574	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr22:23827801-23827897	MCF-7	breast:	n/a	n/a
48	CTCF	chr22:23798850-23798888	LNCaP	prostate:	n/a	n/a
49	CTCF	chr22:23827861-23827946	GM12891	blood:	n/a	n/a
50	CTCF	chr22:23827856-23827895	MCF-7	breast:	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	chr22:23801478-23801528	GM19239	blood:	n/a
2	chr22:23799750-23799800	Jurkat	blood:	n/a
3	chr22:23805705-23805755	HL-60	blood:	n/a
4	chr22:23805705-23805755	Caco-2	colon:	n/a
5	chr22:23801478-23801528	HL-60	blood:	n/a
6	chr22:23801478-23801528	GM12892	blood:	n/a
7	chr22:23805705-23805755	AG09309	skin:	n/a
8	chr22:23802708-23802758	NT2-D1	testis:	n/a
9	chr22:23804719-23804769	NT2-D1	testis:	n/a
10	chr22:23805705-23805755	HEEpiC	esophagus:	n/a
11	chr22:23804719-23804769	BE2_C	brain:	n/a
12	chr22:23802708-23802758	HMEC	breast:	n/a
13	chr22:23805705-23805755	Hela-S3	cervix:	n/a
14	chr22:23802708-23802758	SK-N-MC	brain:	n/a
15	chr22:23802502-23802552	SKMC	muscle:	n/a
16	chr22:23801478-23801528	IMR90	lung:	fetal
17	chr22:23799750-23799800	HIPEpiC	eye:	n/a
18	chr22:23802708-23802758	PANC-1	pancreas:	n/a
19	chr22:23801478-23801528	AG10803	skin:	n/a
20	chr22:23802502-23802552	AG09309	skin:	n/a
21	chr22:23805705-23805755	ECC-1	luminal epithelium:	n/a
22	chr22:23805705-23805755	PFSK-1	brain:	n/a
23	chr22:23802502-23802552	T-47D	breast:	n/a
24	chr22:23805705-23805755	SK-N-MC	brain:	n/a
25	chr22:23801478-23801528	GM12878	blood:	n/a
26	chr22:23799750-23799800	HNPCEpiC	eye:	n/a
27	chr22:23799750-23799800	NHBE	bronchial:	n/a
28	chr22:23802502-23802552	ECC-1	luminal epithelium:	n/a
29	chr22:23802502-23802552	K562	blood:	n/a
30	chr22:23804719-23804769	HepG2	liver:	n/a
31	chr22:23802708-23802758	HCF	heart:	n/a
32	chr22:23802502-23802552	BJ	skin:	n/a
33	chr22:23802502-23802552	RPTEC	kidney:	n/a
34	chr22:23805705-23805755	NHBE	bronchial:	n/a
35	chr22:23801478-23801528	HEEpiC	esophagus:	n/a
36	chr22:23801478-23801528	ProgFib	skin:	n/a
37	chr22:23805705-23805755	HEK293	kidney:	embryo
38	chr22:23804719-23804769	PrEC	prostate:	n/a
39	chr22:23805705-23805755	HNPCEpiC	eye:	n/a
40	chr22:23802708-23802758	BJ	skin:	n/a
41	chr22:23802708-23802758	HCPEpiC	choroid plexus:	n/a
42	chr22:23804719-23804769	HL-60	blood:	n/a
43	chr22:23802502-23802552	Hela-S3	cervix:	n/a
44	chr22:23805705-23805755	HCM	heart:	n/a
45	chr22:23799750-23799800	IMR90	lung:	fetal
46	chr22:23802502-23802552	H1-hESC	embryonic stem cell:	embryo
47	chr22:23799750-23799800	HCF	heart:	n/a
48	chr22:23802502-23802552	LNCaP	prostate:	n/a
49	chr22:23801478-23801528	Hepatocyte	liver:	n/a
50	chr22:23802502-23802552	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23811117..23813674-chr22:23862180..23864787,2	MCF-7	breast:
2	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:
3	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:
4	chr19:47251886..47252386-chr22:23844118..23844644,2	HCT-116	colon:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-2	chr22:23825255-23825313	ENSG00000178248
2	lnc-IGLL1-2	chr22:23829066-23829093	ENSG00000178248
3	lnc-IGLL1-2	chr22:23812181-23812224	ENSG00000178248
4	lnc-RGL4-4	chr22:23838524-23838710	XLOC_014172
5	lnc-IGLL1-2	chr22:23812502-23812523	ENSG00000178248
6	lnc-RGL4-4	chr22:23834998-23835089	XLOC_014172
7	lnc-RGL4-4	chr22:23834998-23835089	XLOC_014172
8	lnc-IGLL1-2	chr22:23816064-23816125	ENSG00000178248
9	lnc-IGLL1-2	chr22:23815565-23815598	ENSG00000178248
10	lnc-IGLL1-2	chr22:23824762-23824792	ENSG00000178248
11	lnc-IGLL1-2	chr22:23822604-23822687	ENSG00000178248
12	lnc-IGLL1-2	chr22:23812995-23813350	ENSG00000178248
13	lnc-RGL4-4	chr22:23838524-23838710	XLOC_014172
14	lnc-RGL4-4	chr22:23838524-23838909	XLOC_014172

No data

Variant related genes	Relation type
ENSG00000178248	TF binding region
ENSG00000227755	TF binding region
ENSG00000178248	CpG island
ENSG00000227755	CpG island
ENSG00000181027	chromatin interactions
SATB1	miRNA target sites
RUNX1	miRNA target sites

Extended variants
information (count: 2648 )
Associated
traits (count: 215 )

Variant overlapped rSNPs/rCNVs (count:2648 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5751670	chr22:23793801-23793802	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564159904	chr22:23793820-23793821	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs533181930	chr22:23793826-23793827	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs181366823	chr22:23793852-23793853	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs535504982	chr22:23793858-23793859	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs145432742	chr22:23793860-23793861	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs529071695	chr22:23793883-23793884	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs375983131	chr22:23793932-23793933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs61031142	chr22:23793940-23793941	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553613574	chr22:23793982-23793983	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs565597017	chr22:23794010-23794011	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113498562	chr22:23794030-23794031	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189103122	chr22:23794034-23794035	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571243947	chr22:23794042-23794043	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555692490	chr22:23794049-23794050	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556570126	chr22:23794055-23794056	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182045880	chr22:23794090-23794091	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371024887	chr22:23794114-23794115	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555937890	chr22:23794123-23794124	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572179201	chr22:23794126-23794127	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541103926	chr22:23794139-23794140	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148289321	chr22:23794140-23794141	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548400151	chr22:23794171-23794172	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543843069	chr22:23794172-23794173	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563387061	chr22:23794188-23794189	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529196054	chr22:23794200-23794201	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548867858	chr22:23794220-23794221	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7292421	chr22:23794221-23794222	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs9624178	chr22:23794262-23794263	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs375457901	chr22:23794271-23794272	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150766485	chr22:23794283-23794284	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187595020	chr22:23794286-23794287	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149527498	chr22:23794299-23794300	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570214234	chr22:23794314-23794315	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs386820073	chr22:23794319-23794320	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs6003719	chr22:23794320-23794321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs146165308	chr22:23794335-23794336	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111357694	chr22:23794386-23794387	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143884227	chr22:23794387-23794388	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541267575	chr22:23794424-23794425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116629951	chr22:23794425-23794426	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371798507	chr22:23794431-23794432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115572772	chr22:23794451-23794452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563716015	chr22:23794458-23794459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529145176	chr22:23794490-23794491	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542887536	chr22:23794510-23794511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114405139	chr22:23794516-23794517	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs73389482	chr22:23794532-23794533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551649099	chr22:23794534-23794535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564927634	chr22:23794539-23794540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:215)

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	21293372	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23791200-23794600	Enhancers	Placenta	Placenta
2	chr22:23792200-23794200	Enhancers	Dnd41	blood
3	chr22:23792400-23795800	Enhancers	Fetal Thymus	thymus
4	chr22:23792800-23794000	Weak transcription	Ovary	ovary
5	chr22:23792800-23794400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr22:23792800-23812800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:23793200-23794000	Enhancers	Fetal Muscle Leg	muscle
8	chr22:23793200-23794600	Enhancers	Thymus	Thymus
9	chr22:23793400-23794000	Enhancers	Primary T cells from cord blood	blood
10	chr22:23793400-23794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:23793800-23794000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr22:23794000-23794200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:23794000-23794200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr22:23794000-23794800	Enhancers	Ovary	ovary
15	chr22:23794000-23798800	Weak transcription	Primary T cells from cord blood	blood
16	chr22:23794200-23794600	Flanking Active TSS	Dnd41	blood
17	chr22:23794200-23794800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr22:23794400-23794600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:23794400-23799000	Weak transcription	Fetal Brain Female	brain
20	chr22:23794600-23794800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:23794600-23794800	Bivalent Enhancer	Thymus	Thymus
22	chr22:23794600-23795000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:23794600-23796000	Enhancers	Dnd41	blood
24	chr22:23794600-23799000	Weak transcription	Placenta	Placenta
25	chr22:23794800-23798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:23794800-23799000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:23794800-23799200	Weak transcription	Ovary	ovary
28	chr22:23794800-23799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:23795600-23795800	Bivalent Enhancer	HepG2	liver
30	chr22:23795800-23798200	Weak transcription	Fetal Thymus	thymus
31	chr22:23796000-23798200	Weak transcription	Dnd41	blood
32	chr22:23798000-23798800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:23798000-23804600	Enhancers	Primary hematopoietic stem cells	blood
34	chr22:23798200-23798800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr22:23798200-23798800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:23798200-23798800	Enhancers	Dnd41	blood
37	chr22:23798200-23804800	Enhancers	Fetal Thymus	thymus
38	chr22:23798400-23800000	Bivalent Enhancer	HepG2	liver
39	chr22:23798600-23799400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:23798800-23799000	Enhancers	Primary T cells from cord blood	blood
41	chr22:23798800-23799200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr22:23798800-23799600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr22:23798800-23799800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr22:23798800-23800000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:23798800-23800000	Enhancers	Fetal Brain Male	brain
46	chr22:23798800-23800200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:23798800-23800200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr22:23798800-23802600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:23798800-23803400	Flanking Active TSS	Dnd41	blood
50	chr22:23799000-23799200	Enhancers	HUES6 Cell Line	embryonic stem cell

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