Variant report

Variant	nsv544616
Chromosome Location	chr22:23474827-23495231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:764)
CpG islands
(count:1592)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23484098-23484608	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23495006-23495443	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23487125-23487667	HepG2	liver:	n/a	n/a
4	ATF1	chr22:23489763-23491038	K562	blood:	n/a	n/a
5	ATF1	chr22:23474991-23475521	K562	blood:	n/a	n/a
6	ATF2	chr22:23479972-23480805	GM12878	blood:	n/a	n/a
7	ATF2	chr22:23479985-23480362	GM12878	blood:	n/a	n/a
8	ATF3	chr22:23486630-23488553	K562	blood:	n/a	n/a
9	ATF3	chr22:23483519-23484607	K562	blood:	n/a	n/a
10	ATF3	chr22:23491817-23492443	K562	blood:	n/a	n/a
11	ATF3	chr22:23483533-23484709	K562	blood:	n/a	n/a
12	ATF3	chr22:23494507-23495858	K562	blood:	n/a	chr22:23495193-23495206
13	BACH1	chr22:23478063-23478066	K562	blood:	n/a	n/a
14	BACH1	chr22:23486347-23488081	K562	blood:	n/a	n/a
15	BACH1	chr22:23485028-23485256	K562	blood:	n/a	n/a
16	BACH1	chr22:23483581-23484532	K562	blood:	n/a	n/a
17	BACH1	chr22:23487179-23487852	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr22:23480495-23480748	GM12878	blood:	n/a	n/a
19	BCL11A	chr22:23480179-23480492	GM12878	blood:	n/a	chr22:23480269-23480278
20	BCLAF1	chr22:23479990-23480558	GM12878	blood:	n/a	chr22:23480269-23480278
21	BHLHE40	chr22:23484944-23485173	K562	blood:	n/a	n/a
22	BHLHE40	chr22:23494550-23494564	K562	blood:	n/a	n/a
23	BHLHE40	chr22:23487408-23487961	GM12878	blood:	n/a	n/a
24	BHLHE40	chr22:23483551-23484544	K562	blood:	n/a	n/a
25	BHLHE40	chr22:23493220-23493247	K562	blood:	n/a	n/a
26	BHLHE40	chr22:23494931-23495281	K562	blood:	n/a	n/a
27	BHLHE40	chr22:23492161-23492462	K562	blood:	n/a	n/a
28	BHLHE40	chr22:23484022-23484491	GM12878	blood:	n/a	n/a
29	BHLHE40	chr22:23486757-23488118	K562	blood:	n/a	n/a
30	CBX3	chr22:23483435-23484686	K562	blood:	n/a	n/a
31	CBX3	chr22:23486307-23488415	K562	blood:	n/a	n/a
32	CCNT2	chr22:23483606-23484436	K562	blood:	n/a	n/a
33	CCNT2	chr22:23486926-23488056	K562	blood:	n/a	n/a
34	CEBPB	chr22:23492989-23493365	HepG2	liver:	n/a	chr22:23493175-23493186
35	CEBPB	chr22:23489865-23490147	K562	blood:	n/a	n/a
36	CEBPB	chr22:23489849-23490148	HepG2	liver:	n/a	n/a
37	CEBPB	chr22:23495081-23495294	HepG2	liver:	n/a	n/a
38	CEBPB	chr22:23484121-23484416	HepG2	liver:	n/a	n/a
39	CEBPB	chr22:23489802-23490205	MCF-7	breast:	n/a	n/a
40	CEBPB	chr22:23489768-23490263	MCF-7	breast:	n/a	n/a
41	CEBPB	chr22:23493054-23493329	A549	lung:	n/a	chr22:23493175-23493186
42	CEBPB	chr22:23484156-23484530	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr22:23487528-23487653	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr22:23494977-23495411	HepG2	liver:	n/a	n/a
45	CEBPB	chr22:23489097-23490191	IMR90	lung:	n/a	n/a
46	CEBPB	chr22:23495025-23495409	HepG2	liver:	n/a	n/a
47	CEBPB	chr22:23493067-23493253	HepG2	liver:	n/a	chr22:23493175-23493186
48	CEBPB	chr22:23493082-23493275	H1-hESC	embryonic stem cell:	n/a	chr22:23493175-23493186
49	CEBPB	chr22:23479984-23480572	GM12878	blood:	n/a	n/a
50	CEBPB	chr22:23493011-23493356	IMR90	lung:	n/a	chr22:23493175-23493186

(count:1592 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23484243-23484293	Caco-2	colon:	n/a
2	chr22:23487969-23488019	NHBE	bronchial:	n/a
3	chr22:23484598-23484648	AG04449	skin:	fetal
4	chr22:23480087-23480137	MCF10A-Er-Src	breast:	n/a
5	chr22:23491290-23491340	AG10803	skin:	n/a
6	chr22:23484274-23484324	HCPEpiC	choroid plexus:	n/a
7	chr22:23484243-23484293	Caco-2	colon:	n/a
8	chr22:23487969-23488019	NHBE	bronchial:	n/a
9	chr22:23484598-23484648	AG04449	skin:	fetal
10	chr22:23480087-23480137	MCF10A-Er-Src	breast:	n/a
11	chr22:23491290-23491340	AG10803	skin:	n/a
12	chr22:23484274-23484324	HCPEpiC	choroid plexus:	n/a
13	chr22:23487027-23487077	HepG2	liver:	n/a
14	chr22:23487586-23487636	ECC-1	luminal epithelium:	n/a
15	chr22:23487104-23487154	BE2_C	brain:	n/a
16	chr22:23484241-23484291	AG09319	gingival:	n/a
17	chr22:23487969-23488019	SAEC	small airway:	n/a
18	chr22:23487411-23487461	HNPCEpiC	eye:	n/a
19	chr22:23486678-23486728	AG09319	gingival:	n/a
20	chr22:23482531-23482581	GM19239	blood:	n/a
21	chr22:23491290-23491340	HRPEpiC	eye:	n/a
22	chr22:23487586-23487636	MCF-7	breast:	n/a
23	chr22:23484598-23484648	AoSMC	blood vessel:	n/a
24	chr22:23484598-23484648	GM06990	blood:	n/a
25	chr22:23487411-23487461	K562	blood:	n/a
26	chr22:23487027-23487077	CMK	blood:	n/a
27	chr22:23484397-23484447	SK-N-SH_RA	brain:	n/a
28	chr22:23487411-23487461	Hepatocyte	liver:	n/a
29	chr22:23487411-23487461	AG04449	skin:	fetal
30	chr22:23486678-23486728	BE2_C	brain:	n/a
31	chr22:23487411-23487461	HCF	heart:	n/a
32	chr22:23484397-23484447	BE2_C	brain:	n/a
33	chr22:23487440-23487490	K562	blood:	n/a
34	chr22:23484243-23484293	AG10803	skin:	n/a
35	chr22:23484243-23484293	AG09319	gingival:	n/a
36	chr22:23484274-23484324	AG09319	gingival:	n/a
37	chr22:23489041-23489091	GM12891	blood:	n/a
38	chr22:23484297-23484347	GM19239	blood:	n/a
39	chr22:23487411-23487461	HUVEC	blood vessel:	n/a
40	chr22:23491290-23491340	IMR90	lung:	fetal
41	chr22:23487104-23487154	HUVEC	blood vessel:	n/a
42	chr22:23482531-23482581	Hela-S3	cervix:	n/a
43	chr22:23487411-23487461	AG10803	skin:	n/a
44	chr22:23484274-23484324	U87	brain:	n/a
45	chr22:23487969-23488019	AoSMC	blood vessel:	n/a
46	chr22:23482531-23482581	RPTEC	kidney:	n/a
47	chr22:23482531-23482581	AG10803	skin:	n/a
48	chr22:23489041-23489091	GM19239	blood:	n/a
49	chr22:23484001-23484051	ProgFib	skin:	n/a
50	chr22:23489041-23489091	HIPEpiC	eye:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23463055..23465071-chr22:23484358..23487240,2	K562	blood:
2	chr22:23484062..23485814-chr22:23485870..23488963,4	K562	blood:
3	chr22:23487601..23489180-chr22:23514831..23516352,2	MCF-7	breast:
4	chr22:22900276..22902223-chr22:23486030..23487937,2	K562	blood:
5	chr22:23486968..23489257-chr9:133803700..133806621,2	K562	blood:
6	chr22:19159140..19161731-chr22:23487977..23489996,2	K562	blood:
7	chr22:23493617..23494117-chr22:23509321..23509833,2	MCF-7	breast:
8	chr20:52238455..52240953-chr22:23487999..23490190,2	MCF-7	breast:
9	chr22:23494056..23496590-chr22:23496723..23499466,2	MCF-7	breast:
10	chr22:23487336..23487847-chr4:57843436..57844248,2	HCT-116	colon:
11	chr22:23484062..23485814-chr22:23485870..23488963,4	K562	blood:
12	chr22:23488142..23489912-chr22:23520735..23522440,2	MCF-7	breast:
13	chr22:23488468..23492750-chr22:23493638..23496151,4	MCF-7	breast:
14	chr22:23493175..23494139-chr22:23509321..23510213,3	MCF-7	breast:
15	chr22:23493765..23495502-chr22:23500270..23503203,2	MCF-7	breast:
16	chr22:23410484..23412785-chr22:23485960..23488893,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-6	chr22:23474917-23475187	NONHSAT083854

No data

Variant related genes	Relation type
RTDR1	TF binding region
ENSG00000272019	TF binding region
RAB36	TF binding region
ENSG00000221069	TF binding region
RTDR1	CpG island
ENSG00000272019	CpG island
RAB36	CpG island
ENSG00000221069	CpG island
ENSG00000185686	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000130720	chromatin interactions
ENSG00000047315	chromatin interactions
ENSG00000128266	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000100218	chromatin interactions
ENSG00000236794	chromatin interactions

Extended variants
information (count: 801 )
Associated
traits (count: 207 )

Variant overlapped rSNPs/rCNVs (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200735905	chr22:23474908-23474909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73168827	chr22:23474920-23474921	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs545913723	chr22:23474951-23474952	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs565522153	chr22:23474971-23474972	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs4822359	chr22:23474972-23474973	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551020510	chr22:23474989-23474990	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs146735824	chr22:23474990-23474991	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs570363549	chr22:23475064-23475065	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs12484077	chr22:23475067-23475068	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376335048	chr22:23475100-23475101	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs78255759	chr22:23475101-23475102	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs117809204	chr22:23475102-23475103	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs377029218	chr22:23475112-23475113	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs74760439	chr22:23475117-23475118	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs191650032	chr22:23475155-23475156	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs79666930	chr22:23475223-23475224	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs554437223	chr22:23475327-23475328	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs574690258	chr22:23475335-23475336	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs183046488	chr22:23475343-23475344	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs553803276	chr22:23475379-23475380	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs576901527	chr22:23475400-23475401	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs545958272	chr22:23475463-23475464	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs140392795	chr22:23475482-23475483	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs571675911	chr22:23475500-23475501	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs187048009	chr22:23475546-23475547	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs539603651	chr22:23475622-23475623	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs561285852	chr22:23475638-23475639	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs191513822	chr22:23475690-23475691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374364511	chr22:23475735-23475736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5759596	chr22:23475750-23475751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370877761	chr22:23475755-23475756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5751589	chr22:23475762-23475763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs150387965	chr22:23475763-23475764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371130269	chr22:23475791-23475792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569030982	chr22:23475793-23475794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577488653	chr22:23475815-23475816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145094092	chr22:23475820-23475821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149022339	chr22:23475826-23475827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568112102	chr22:23475862-23475863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572592714	chr22:23475922-23475923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138706585	chr22:23475968-23475969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530095818	chr22:23476063-23476064	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs142767414	chr22:23476065-23476066	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs182192647	chr22:23476073-23476074	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs376622752	chr22:23476074-23476075	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs539463280	chr22:23476122-23476123	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs556161848	chr22:23476123-23476124	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs576096990	chr22:23476126-23476127	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs188050684	chr22:23476134-23476135	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs369825129	chr22:23476183-23476184	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:207)

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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:1315 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23453200-23484800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:23470600-23476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:23470800-23483600	Weak transcription	Fetal Intestine Small	intestine
4	chr22:23471000-23476200	Weak transcription	Fetal Stomach	stomach
5	chr22:23471400-23476200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:23471400-23483600	Weak transcription	Brain Anterior Caudate	brain
7	chr22:23471400-23483600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:23473400-23476200	Weak transcription	Right Atrium	heart
9	chr22:23474400-23478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:23476200-23476400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:23476200-23476600	ZNF genes & repeats	Fetal Stomach	stomach
12	chr22:23476200-23478400	Strong transcription	Right Atrium	heart
13	chr22:23476200-23479600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:23476200-23483800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr22:23476400-23476600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr22:23476400-23476600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:23476600-23478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:23476600-23483600	Weak transcription	Fetal Stomach	stomach
19	chr22:23476800-23477800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:23476800-23483800	Weak transcription	Right Ventricle	heart
21	chr22:23477000-23483800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr22:23477200-23477800	Enhancers	GM12878-XiMat	blood
23	chr22:23477800-23478000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr22:23477800-23478000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:23477800-23478000	Flanking Active TSS	GM12878-XiMat	blood
26	chr22:23477800-23478200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:23477800-23478400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:23477800-23478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr22:23477800-23479000	Enhancers	Dnd41	blood
30	chr22:23477800-23479400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr22:23477800-23479600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr22:23477800-23480000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr22:23477800-23481400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr22:23477800-23481600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:23477800-23481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr22:23477800-23483600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr22:23477800-23484200	Enhancers	Primary B cells from cord blood	blood
38	chr22:23477800-23485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr22:23478000-23478200	Enhancers	GM12878-XiMat	blood
40	chr22:23478000-23478400	Bivalent Enhancer	K562	blood
41	chr22:23478000-23479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:23478000-23481800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr22:23478000-23484000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:23478200-23478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:23478200-23478400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr22:23478200-23478400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:23478200-23478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:23478200-23478400	Enhancers	Primary hematopoietic stem cells	blood
49	chr22:23478200-23478400	Flanking Active TSS	GM12878-XiMat	blood
50	chr22:23478200-23479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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