Variant report

Variant	esv17028
Chromosome Location	chr22:23649375-23672982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:840)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:840 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23657979-23658172	K562	blood:	n/a	n/a
2	BATF	chr22:23666503-23666792	GM12878	blood:	n/a	n/a
3	BATF	chr22:23672464-23672742	GM12878	blood:	n/a	n/a
4	BATF	chr22:23671503-23671725	GM12878	blood:	n/a	n/a
5	BATF	chr22:23668521-23668817	GM12878	blood:	n/a	n/a
6	BATF	chr22:23666401-23666786	GM12878	blood:	n/a	n/a
7	BATF	chr22:23657967-23658690	GM12878	blood:	n/a	n/a
8	BATF	chr22:23672445-23672773	GM12878	blood:	n/a	n/a
9	BATF	chr22:23662301-23662502	GM12878	blood:	n/a	n/a
10	BATF	chr22:23652901-23653216	GM12878	blood:	n/a	chr22:23653078-23653089
11	BATF	chr22:23667425-23667682	GM12878	blood:	n/a	n/a
12	BATF	chr22:23658748-23658957	GM12878	blood:	n/a	n/a
13	BATF	chr22:23657970-23658426	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:23654562-23654865	GM12878	blood:	n/a	n/a
15	BCL11A	chr22:23652929-23653381	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:23669504-23669747	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:23658742-23659011	GM12878	blood:	n/a	n/a
18	BCL11A	chr22:23657996-23658681	GM12878	blood:	n/a	n/a
19	BCL11A	chr22:23657947-23658653	GM12878	blood:	n/a	n/a
20	BCL11A	chr22:23652930-23653464	GM12878	blood:	n/a	n/a
21	BHLHE40	chr22:23657859-23658101	GM12878	blood:	n/a	n/a
22	BHLHE40	chr22:23657975-23658206	K562	blood:	n/a	n/a
23	BHLHE40	chr22:23667505-23667688	GM12878	blood:	n/a	n/a
24	BHLHE40	chr22:23652825-23653281	HepG2	liver:	n/a	n/a
25	BHLHE40	chr22:23666556-23666873	GM12878	blood:	n/a	n/a
26	CBX3	chr22:23652887-23653508	K562	blood:	n/a	n/a
27	CBX3	chr22:23657784-23658294	K562	blood:	n/a	n/a
28	CEBPB	chr22:23664470-23664670	IMR90	lung:	n/a	chr22:23664558-23664569
29	CEBPB	chr22:23667729-23667955	IMR90	lung:	n/a	n/a
30	CEBPB	chr22:23664515-23664585	HepG2	liver:	n/a	chr22:23664558-23664569
31	CEBPB	chr22:23667827-23667918	HepG2	liver:	n/a	n/a
32	CHD1	chr22:23657464-23658122	IMR90	lung:	n/a	n/a
33	CHD2	chr22:23667527-23667722	GM12878	blood:	n/a	n/a
34	CTCF	chr22:23658532-23658737	LNCaP	prostate:	n/a	n/a
35	CTCF	chr22:23657800-23657950	HCT-116	colon:	n/a	n/a
36	CTCF	chr22:23657880-23658030	AG04449	skin:	n/a	n/a
37	CTCF	chr22:23657880-23658030	NHEK	skin:	n/a	n/a
38	CTCF	chr22:23658564-23658725	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr22:23664744-23664857	MCF-7	breast:	n/a	n/a
40	CTCF	chr22:23657800-23658005	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr22:23657420-23657570	HepG2	liver:	n/a	chr22:23657502-23657511
42	CTCF	chr22:23657840-23657990	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr22:23658900-23659050	HepG2	liver:	n/a	n/a
44	CTCF	chr22:23657730-23658286	A549	lung:	n/a	n/a
45	CTCF	chr22:23664761-23664881	MCF-7	breast:	n/a	n/a
46	CTCF	chr22:23664662-23665024	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr22:23668720-23668870	BJ	skin:	n/a	n/a
48	CTCF	chr22:23657860-23658010	SAEC	small airway:	n/a	n/a
49	CTCF	chr22:23657860-23658010	GM12872	blood:	n/a	n/a
50	CTCF	chr22:23664720-23664870	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23658966-23659016	GM12891	blood:	n/a
2	chr22:23658966-23659016	PFSK-1	brain:	n/a
3	chr22:23658966-23659016	HRPEpiC	eye:	n/a
4	chr22:23658966-23659016	HepG2	liver:	n/a
5	chr22:23658966-23659016	SK-N-MC	brain:	n/a
6	chr22:23658966-23659016	SK-N-SH_RA	brain:	n/a
7	chr22:23658966-23659016	MCF-7	breast:	n/a
8	chr22:23658966-23659016	HCPEpiC	choroid plexus:	n/a
9	chr22:23658966-23659016	MCF10A-Er-Src	breast:	n/a
10	chr22:23658966-23659016	HRE	kidney:	n/a
11	chr22:23658966-23659016	BE2_C	brain:	n/a
12	chr22:23658966-23659016	NHDF-neo	bronchial:	n/a
13	chr22:23658966-23659016	Hepatocyte	liver:	n/a
14	chr22:23658966-23659016	AG04449	skin:	fetal
15	chr22:23658966-23659016	IMR90	lung:	fetal
16	chr22:23658966-23659016	HCF	heart:	n/a
17	chr22:23658966-23659016	Hela-S3	cervix:	n/a
18	chr22:23658966-23659016	HUVEC	blood vessel:	n/a
19	chr22:23658966-23659016	ECC-1	luminal epithelium:	n/a
20	chr22:23658966-23659016	NB4	blood:	n/a
21	chr22:23658966-23659016	ProgFib	skin:	n/a
22	chr22:23658966-23659016	HRCEpiC	kidney:	n/a
23	chr22:23658966-23659016	GM12878	blood:	n/a
24	chr22:23658966-23659016	PANC-1	pancreas:	n/a
25	chr22:23658966-23659016	U87	brain:	n/a
26	chr22:23658966-23659016	HAEpiC	amniotic membrane:	n/a
27	chr22:23658966-23659016	NT2-D1	testis:	n/a
28	chr22:23658966-23659016	H1-hESC	embryonic stem cell:	embryo
29	chr22:23658966-23659016	Caco-2	colon:	n/a
30	chr22:23658966-23659016	HIPEpiC	eye:	n/a
31	chr22:23658966-23659016	GM19239	blood:	n/a
32	chr22:23658966-23659016	AoSMC	blood vessel:	n/a
33	chr22:23658966-23659016	PrEC	prostate:	n/a
34	chr22:23658966-23659016	HNPCEpiC	eye:	n/a
35	chr22:23658966-23659016	NHBE	bronchial:	n/a
36	chr22:23658966-23659016	ovcar-3	ovarian:	n/a
37	chr22:23658966-23659016	T-47D	breast:	n/a
38	chr22:23658966-23659016	NH-A	brain:	n/a
39	chr22:23658966-23659016	HPAEpiC	pulmonary alveolar:	n/a
40	chr22:23658966-23659016	SAEC	small airway:	n/a
41	chr22:23658966-23659016	BJ	skin:	n/a
42	chr22:23658966-23659016	SK-N-SH	brain:	n/a
43	chr22:23658966-23659016	K562	blood:	n/a
44	chr22:23658966-23659016	HL-60	blood:	n/a
45	chr22:23658966-23659016	GM12892	blood:	n/a
46	chr22:23658966-23659016	LNCaP	prostate:	n/a
47	chr22:23658966-23659016	HMEC	breast:	n/a
48	chr22:23658966-23659016	HCT-116	colon:	n/a
49	chr22:23658966-23659016	A549	lung:	n/a
50	chr22:23658966-23659016	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:23656155..23656793-chr22:23727780..23728604,2	MCF-7	breast:
2	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:
3	chr22:23657902..23658403-chr22:23744575..23745126,2	K562	blood:
4	chr22:23657846..23658387-chr22:23727772..23728507,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-5	chr22:23660661-23660864	NONHSAT083876
2	lnc-BCR-1	chr22:23668803-23668978	XLOC_014170
3	lnc-RAB36-6	chr22:23658994-23659291	NONHSAT083875
4	lnc-BCR-1	chr22:23670511-23670680	XLOC_014170
5	lnc-RTDR1-5	chr22:23659119-23660289	NONHSAT083876

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BCR	hsa-miR-10a-5p	chr22:23658202-23658226
2	BCR	hsa-miR-10a-5p	chr22:23658219-23658225

Variant related genes	Relation type
ENSG00000236611	TF binding region
BCR	TF binding region
ENSG00000214526	TF binding region
ENSG00000236611	CpG island
BCR	CpG island
ENSG00000214526	CpG island
ENSG00000133519	chromatin interactions

Extended variants
information (count: 1201 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143426101	chr22:23649391-23649392	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs131694	chr22:23649427-23649428	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553737597	chr22:23649439-23649440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565834089	chr22:23649442-23649443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144686155	chr22:23649461-23649462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79017965	chr22:23649471-23649472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534513364	chr22:23649606-23649607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200103030	chr22:23649607-23649608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113490607	chr22:23649651-23649652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34702290	chr22:23649677-23649678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34647284	chr22:23649687-23649688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557972929	chr22:23649688-23649689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577648522	chr22:23649720-23649721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4050356	chr22:23649738-23649739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556509404	chr22:23649788-23649789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548283771	chr22:23649800-23649801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545795402	chr22:23649827-23649828	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573315316	chr22:23649865-23649866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149904420	chr22:23649868-23649869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs143380553	chr22:23649889-23649890	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555641209	chr22:23649938-23649939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572741709	chr22:23649971-23649972	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28405226	chr22:23649994-23649995	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs564732979	chr22:23649995-23649996	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183273406	chr22:23650011-23650012	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559071810	chr22:23650046-23650047	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531874572	chr22:23650047-23650048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142906204	chr22:23650085-23650086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563634164	chr22:23650134-23650135	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs113876812	chr22:23650146-23650147	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs131700	chr22:23650192-23650193	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs529308545	chr22:23650276-23650277	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs373737150	chr22:23650324-23650325	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs568243270	chr22:23650353-23650354	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565970204	chr22:23650359-23650360	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs188144985	chr22:23650371-23650372	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551263758	chr22:23650379-23650380	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs35831268	chr22:23650424-23650425	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs571439749	chr22:23650440-23650441	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537169135	chr22:23650478-23650479	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs190449250	chr22:23650480-23650481	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs73152677	chr22:23650491-23650492	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs566873543	chr22:23650529-23650530	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535839147	chr22:23650557-23650558	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182991693	chr22:23650569-23650570	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572632604	chr22:23650573-23650574	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs541733221	chr22:23650593-23650594	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371859570	chr22:23650613-23650614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs131701	chr22:23650622-23650623	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143900118	chr22:23650649-23650650	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:212)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23595800-23649600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr22:23608800-23649400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:23624400-23649400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:23624400-23649400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr22:23624400-23649400	Strong transcription	Thymus	Thymus
6	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:23624600-23649400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:23624800-23649400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr22:23625800-23649400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:23632800-23657600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:23633000-23649400	Strong transcription	Fetal Intestine Small	intestine
13	chr22:23635200-23657600	Weak transcription	A549	lung
14	chr22:23635600-23649400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:23635600-23655200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:23635800-23657800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:23636000-23657400	Weak transcription	Small Intestine	intestine
18	chr22:23636600-23657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:23636600-23657800	Weak transcription	Hela-S3	cervix
20	chr22:23637800-23657400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:23639800-23656200	Weak transcription	Fetal Kidney	kidney
22	chr22:23640200-23656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:23640200-23660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:23642800-23650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:23642800-23656200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:23643000-23658200	Weak transcription	GM12878-XiMat	blood
27	chr22:23644200-23653800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr22:23644800-23654000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:23645000-23654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:23645000-23659200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr22:23645200-23654000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:23645200-23654400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr22:23645200-23655800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:23645200-23656200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr22:23645600-23653800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr22:23645600-23655200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr22:23645800-23654000	Weak transcription	Fetal Intestine Large	intestine
38	chr22:23645800-23654200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr22:23645800-23654200	Weak transcription	Pancreas	Pancrea
40	chr22:23645800-23656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:23646000-23655800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:23646000-23658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:23646000-23664800	Weak transcription	HepG2	liver
44	chr22:23646600-23649600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr22:23646800-23649400	Enhancers	Left Ventricle	heart
46	chr22:23646800-23649400	Enhancers	Ovary	ovary
47	chr22:23646800-23649400	Enhancers	Right Ventricle	heart
48	chr22:23646800-23649400	Genic enhancers	Spleen	Spleen
49	chr22:23647000-23649400	Enhancers	Lung	lung
50	chr22:23647000-23649400	Enhancers	NHLF	lung

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