Variant report

Variant	esv15382
Chromosome Location	chr22:23803474-23829377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:419)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr22:23828883-23829053	GM12878	blood:	n/a	n/a
3	BATF	chr22:23827789-23828067	GM12878	blood:	n/a	n/a
4	BATF	chr22:23819974-23820417	GM12878	blood:	n/a	n/a
5	BATF	chr22:23817542-23817698	GM12878	blood:	n/a	n/a
6	BATF	chr22:23814219-23814432	GM12878	blood:	n/a	n/a
7	BATF	chr22:23815225-23815371	GM12878	blood:	n/a	n/a
8	BATF	chr22:23827783-23828060	GM12878	blood:	n/a	n/a
9	BCL11A	chr22:23820122-23820430	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:23814300-23814538	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:23819918-23820441	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:23827775-23828065	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	chr22:23827797-23828034	GM12878	blood:	n/a	n/a
16	BHLHE40	chr22:23810980-23811147	HepG2	liver:	n/a	n/a
17	BHLHE40	chr22:23828739-23829217	HepG2	liver:	n/a	n/a
18	BHLHE40	chr22:23810674-23810961	HepG2	liver:	n/a	n/a
19	BHLHE40	chr22:23810125-23810453	HepG2	liver:	n/a	n/a
20	BHLHE40	chr22:23810151-23810450	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:23827779-23827957	HepG2	liver:	n/a	n/a
22	CEBPB	chr22:23805382-23805445	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr22:23814003-23814182	HepG2	liver:	n/a	n/a
24	CEBPB	chr22:23817889-23818034	HepG2	liver:	n/a	chr22:23817946-23817957
25	CHD2	chr22:23825339-23825347	GM12878	blood:	n/a	n/a
26	CTCF	chr22:23827868-23828006	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr22:23827839-23827856	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr22:23827867-23828004	GM10266	blood:	n/a	n/a
29	CTCF	chr22:23827860-23827974	Gliobla	brain:	n/a	n/a
30	CTCF	chr22:23828965-23829012	GM20000	blood:	n/a	n/a
31	CTCF	chr22:23827867-23828014	GM10248	blood:	n/a	n/a
32	CTCF	chr22:23827858-23827957	GM19239	blood:	n/a	n/a
33	CTCF	chr22:23828955-23829079	LNCaP	prostate:	n/a	n/a
34	CTCF	chr22:23810440-23810590	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr22:23827869-23828003	Medullo	brain:	n/a	n/a
36	CTCF	chr22:23827801-23827897	MCF-7	breast:	n/a	n/a
37	CTCF	chr22:23828961-23829054	GM10266	blood:	n/a	n/a
38	CTCF	chr22:23828908-23829070	GM10248	blood:	n/a	n/a
39	CTCF	chr22:23827859-23827896	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr22:23827856-23827895	MCF-7	breast:	n/a	n/a
41	CTCF	chr22:23827867-23828013	LNCaP	prostate:	n/a	n/a
42	CTCF	chr22:23827861-23827946	GM12891	blood:	n/a	n/a
43	CTCF	chr22:23827837-23827917	A549	lung:	n/a	n/a
44	CTCF	chr22:23828962-23829049	LNCaP	prostate:	n/a	n/a
45	CTCF	chr22:23827834-23827853	MCF-7	breast:	n/a	n/a
46	CTCF	chr22:23809394-23809477	MCF-7	breast:	n/a	chr22:23809436-23809457 chr22:23809434-23809452
47	CTCF	chr22:23809429-23809445	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr22:23828955-23829077	Medullo	brain:	n/a	n/a
49	CTCF	chr22:23827858-23827895	GM12892	blood:	n/a	n/a
50	CTCF	chr22:23809426-23809441	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23804719-23804769	HCM	heart:	n/a
2	chr22:23805705-23805755	SKMC	muscle:	n/a
3	chr22:23805705-23805755	SK-N-SH_RA	brain:	n/a
4	chr22:23804719-23804769	GM12891	blood:	n/a
5	chr22:23804719-23804769	HRPEpiC	eye:	n/a
6	chr22:23805705-23805755	ProgFib	skin:	n/a
7	chr22:23804719-23804769	NHBE	bronchial:	n/a
8	chr22:23805705-23805755	SK-N-SH	brain:	n/a
9	chr22:23805705-23805755	AG04449	skin:	fetal
10	chr22:23805705-23805755	Jurkat	blood:	n/a
11	chr22:23804719-23804769	HAEpiC	amniotic membrane:	n/a
12	chr22:23804719-23804769	NHDF-neo	bronchial:	n/a
13	chr22:23804719-23804769	SAEC	small airway:	n/a
14	chr22:23804719-23804769	H1-hESC	embryonic stem cell:	embryo
15	chr22:23804719-23804769	GM19239	blood:	n/a
16	chr22:23804719-23804769	BJ	skin:	n/a
17	chr22:23805705-23805755	MCF10A-Er-Src	breast:	n/a
18	chr22:23804719-23804769	PFSK-1	brain:	n/a
19	chr22:23805705-23805755	HCT-116	colon:	n/a
20	chr22:23805705-23805755	HL-60	blood:	n/a
21	chr22:23805705-23805755	AoSMC	blood vessel:	n/a
22	chr22:23804719-23804769	HEK293	kidney:	embryo
23	chr22:23804719-23804769	GM06990	blood:	n/a
24	chr22:23805705-23805755	GM12892	blood:	n/a
25	chr22:23804719-23804769	SK-N-SH	brain:	n/a
26	chr22:23805705-23805755	K562	blood:	n/a
27	chr22:23805705-23805755	IMR90	lung:	fetal
28	chr22:23804719-23804769	HRCEpiC	kidney:	n/a
29	chr22:23805705-23805755	T-47D	breast:	n/a
30	chr22:23805705-23805755	NHBE	bronchial:	n/a
31	chr22:23805705-23805755	NT2-D1	testis:	n/a
32	chr22:23805705-23805755	PFSK-1	brain:	n/a
33	chr22:23805705-23805755	Hela-S3	cervix:	n/a
34	chr22:23804719-23804769	AG04449	skin:	fetal
35	chr22:23805705-23805755	CMK	blood:	n/a
36	chr22:23805705-23805755	PANC-1	pancreas:	n/a
37	chr22:23804719-23804769	HPAEpiC	pulmonary alveolar:	n/a
38	chr22:23804719-23804769	A549	lung:	n/a
39	chr22:23805705-23805755	AG09309	skin:	n/a
40	chr22:23804719-23804769	MCF-7	breast:	n/a
41	chr22:23804719-23804769	CMK	blood:	n/a
42	chr22:23805705-23805755	RPTEC	kidney:	n/a
43	chr22:23804719-23804769	AG04450	lung:	fetal
44	chr22:23804719-23804769	HMEC	breast:	n/a
45	chr22:23804719-23804769	ProgFib	skin:	n/a
46	chr22:23805705-23805755	HRE	kidney:	n/a
47	chr22:23804719-23804769	GM12878	blood:	n/a
48	chr22:23805705-23805755	GM12878	blood:	n/a
49	chr22:23805705-23805755	HUVEC	blood vessel:	n/a
50	chr22:23805705-23805755	GM12891	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:
2	chr22:23811117..23813674-chr22:23862180..23864787,2	MCF-7	breast:
3	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-2	chr22:23829066-23829093	ENSG00000178248
2	lnc-IGLL1-2	chr22:23815565-23815598	ENSG00000178248
3	lnc-IGLL1-2	chr22:23822604-23822687	ENSG00000178248
4	lnc-IGLL1-2	chr22:23816064-23816125	ENSG00000178248
5	lnc-IGLL1-2	chr22:23812181-23812224	ENSG00000178248
6	lnc-IGLL1-2	chr22:23812502-23812523	ENSG00000178248
7	lnc-IGLL1-2	chr22:23825255-23825313	ENSG00000178248
8	lnc-IGLL1-2	chr22:23824762-23824792	ENSG00000178248
9	lnc-IGLL1-2	chr22:23812995-23813350	ENSG00000178248

No data

Variant related genes	Relation type
ENSG00000178248	TF binding region
ENSG00000178248	CpG island

Extended variants
information (count: 1200 )
Associated
traits (count: 214 )

Variant overlapped rSNPs/rCNVs (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564267748	chr22:23803481-23803482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35442368	chr22:23803500-23803501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533098722	chr22:23803532-23803533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550008316	chr22:23803545-23803546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563335756	chr22:23803569-23803570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2000462	chr22:23803608-23803609	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs536706882	chr22:23803638-23803639	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2000463	chr22:23803722-23803723	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs565654530	chr22:23803733-23803734	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372898106	chr22:23803760-23803761	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113882814	chr22:23803765-23803766	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534361231	chr22:23803828-23803829	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568437575	chr22:23803947-23803948	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7288974	chr22:23803972-23803973	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8139466	chr22:23804031-23804032	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539983094	chr22:23804068-23804069	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376595237	chr22:23804106-23804107	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141172462	chr22:23804140-23804141	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535534981	chr22:23804163-23804164	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182233483	chr22:23804172-23804173	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186842464	chr22:23804206-23804207	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34225947	chr22:23804247-23804248	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576673987	chr22:23804250-23804251	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs398061844	chr22:23804251-23804252	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61746804	chr22:23804282-23804283	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146930734	chr22:23804292-23804293	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577874306	chr22:23804296-23804297	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6003726	chr22:23804301-23804302	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs2032113	chr22:23804307-23804308	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529136275	chr22:23804330-23804331	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116393559	chr22:23804366-23804367	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192908705	chr22:23804391-23804392	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138042737	chr22:23804418-23804419	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139977533	chr22:23804448-23804449	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12172378	chr22:23804461-23804462	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540710013	chr22:23804468-23804469	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs66484316	chr22:23804469-23804470	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150144174	chr22:23804470-23804471	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12159447	chr22:23804487-23804488	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113840972	chr22:23804490-23804491	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12172379	chr22:23804507-23804508	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71865791	chr22:23804527-23804528	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12168756	chr22:23804528-23804529	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184909461	chr22:23804549-23804550	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12168433	chr22:23804558-23804559	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112509734	chr22:23804585-23804586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188568742	chr22:23804598-23804599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533469669	chr22:23804606-23804607	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186478000	chr22:23804608-23804609	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550090611	chr22:23804614-23804615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:214)

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

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23792800-23812800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:23798000-23804600	Enhancers	Primary hematopoietic stem cells	blood
3	chr22:23798200-23804800	Enhancers	Fetal Thymus	thymus
4	chr22:23799800-23804200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr22:23800400-23815200	Weak transcription	Primary B cells from cord blood	blood
6	chr22:23801600-23806800	Weak transcription	Ovary	ovary
7	chr22:23803000-23804600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:23803000-23805600	Weak transcription	Fetal Intestine Large	intestine
9	chr22:23803000-23806000	Weak transcription	Fetal Intestine Small	intestine
10	chr22:23803200-23806800	Weak transcription	Thymus	Thymus
11	chr22:23803400-23803600	Enhancers	Dnd41	blood
12	chr22:23803600-23805000	Genic enhancers	Dnd41	blood
13	chr22:23804800-23806400	Weak transcription	Fetal Thymus	thymus
14	chr22:23805000-23805600	Strong transcription	Dnd41	blood
15	chr22:23805000-23805800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:23805600-23806000	Weak transcription	Dnd41	blood
17	chr22:23806000-23808600	Enhancers	Dnd41	blood
18	chr22:23806400-23807200	Enhancers	Fetal Thymus	thymus
19	chr22:23806800-23807000	Enhancers	Ovary	ovary
20	chr22:23806800-23807000	Enhancers	Thymus	Thymus
21	chr22:23807000-23808200	Weak transcription	Ovary	ovary
22	chr22:23807200-23808000	Weak transcription	Fetal Thymus	thymus
23	chr22:23808000-23808800	Enhancers	Fetal Thymus	thymus
24	chr22:23808800-23813000	Weak transcription	A549	lung
25	chr22:23809400-23810600	Enhancers	HepG2	liver
26	chr22:23812200-23812400	Enhancers	HepG2	liver
27	chr22:23812800-23813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:23813000-23814400	Enhancers	HepG2	liver
29	chr22:23813200-23813400	Enhancers	A549	lung
30	chr22:23813400-23814000	Enhancers	Fetal Brain Male	brain
31	chr22:23813800-23814200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:23814000-23815600	Enhancers	Primary B cells from peripheral blood	blood
33	chr22:23814000-23815600	Weak transcription	Fetal Brain Male	brain
34	chr22:23814200-23815400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr22:23815200-23815400	Enhancers	Primary B cells from cord blood	blood
36	chr22:23815400-23817000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr22:23815600-23816400	Enhancers	Fetal Brain Male	brain
38	chr22:23816000-23816200	Enhancers	Brain Cingulate Gyrus	brain
39	chr22:23816000-23817200	Enhancers	Brain Germinal Matrix	brain
40	chr22:23816200-23817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:23816200-23817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:23816200-23817000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:23816200-23817000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr22:23819600-23821400	Enhancers	Dnd41	blood
45	chr22:23820400-23820600	Enhancers	Small Intestine	intestine
46	chr22:23820400-23820800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr22:23820400-23820800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:23820600-23821200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr22:23821400-23825200	Weak transcription	Dnd41	blood
50	chr22:23823600-23824200	Enhancers	Fetal Thymus	thymus

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