Variant report

Variant	nsv531549
Chromosome Location	chr22:22082380-22116681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1008)
CpG islands
(count:916)
Chromatin interactive
region (count:103)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22108775-22110663	K562	blood:	n/a	n/a
2	ARID3A	chr22:22089256-22089896	K562	blood:	n/a	n/a
3	ARID3A	chr22:22090153-22090405	K562	blood:	n/a	n/a
4	ATF1	chr22:22114936-22115664	K562	blood:	n/a	n/a
5	ATF1	chr22:22108776-22109714	K562	blood:	n/a	n/a
6	ATF1	chr22:22110058-22110480	K562	blood:	n/a	n/a
7	ATF2	chr22:22110187-22110755	GM12878	blood:	n/a	n/a
8	ATF2	chr22:22090399-22090648	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr22:22110091-22110785	GM12878	blood:	n/a	n/a
10	ATF3	chr22:22085156-22085628	K562	blood:	n/a	n/a
11	ATF3	chr22:22092339-22092812	K562	blood:	n/a	n/a
12	ATF3	chr22:22085283-22085638	K562	blood:	n/a	n/a
13	ATF3	chr22:22089508-22090939	K562	blood:	n/a	chr22:22090324-22090333
14	BACH1	chr22:22090700-22090772	K562	blood:	n/a	n/a
15	BACH1	chr22:22108719-22110743	K562	blood:	n/a	n/a
16	BACH1	chr22:22089779-22090921	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr22:22115408-22115706	GM12878	blood:	n/a	n/a
18	BATF	chr22:22110081-22110614	GM12878	blood:	n/a	n/a
19	BATF	chr22:22115385-22115773	GM12878	blood:	n/a	n/a
20	BATF	chr22:22110099-22110612	GM12878	blood:	n/a	n/a
21	BCL11A	chr22:22110233-22110538	GM12878	blood:	n/a	n/a
22	BCL11A	chr22:22110197-22110544	GM12878	blood:	n/a	n/a
23	BCL3	chr22:22108533-22114154	K562	blood:	n/a	n/a
24	BCL3	chr22:22110056-22110685	GM12878	blood:	n/a	n/a
25	BCL3	chr22:22110185-22110602	GM12878	blood:	n/a	n/a
26	BCLAF1	chr22:22089050-22090609	K562	blood:	n/a	n/a
27	BCLAF1	chr22:22089690-22090197	GM12878	blood:	n/a	n/a
28	BCLAF1	chr22:22109931-22110974	GM12878	blood:	n/a	n/a
29	BHLHE40	chr22:22108029-22108286	K562	blood:	n/a	n/a
30	BHLHE40	chr22:22090182-22090389	HepG2	liver:	n/a	n/a
31	BHLHE40	chr22:22092414-22092739	K562	blood:	n/a	n/a
32	BHLHE40	chr22:22089524-22090574	GM12878	blood:	n/a	chr22:22089778-22089794 chr22:22089867-22089883 chr22:22089875-22089891
33	BHLHE40	chr22:22110015-22110647	K562	blood:	n/a	n/a
34	BHLHE40	chr22:22089816-22090512	HepG2	liver:	n/a	chr22:22089867-22089883 chr22:22089875-22089891
35	BHLHE40	chr22:22115423-22115653	GM12878	blood:	n/a	n/a
36	BHLHE40	chr22:22089259-22090839	K562	blood:	n/a	chr22:22089778-22089794 chr22:22089867-22089883 chr22:22089875-22089891
37	BHLHE40	chr22:22090244-22090320	A549	lung:	n/a	n/a
38	BHLHE40	chr22:22110213-22110568	GM12878	blood:	n/a	n/a
39	BHLHE40	chr22:22108725-22109789	K562	blood:	n/a	n/a
40	BHLHE40	chr22:22115564-22115591	K562	blood:	n/a	n/a
41	BRCA1	chr22:22116406-22116504	GM12878	blood:	n/a	n/a
42	CBX3	chr22:22088685-22091621	K562	blood:	n/a	n/a
43	CBX3	chr22:22108484-22111189	K562	blood:	n/a	n/a
44	CBX3	chr22:22108552-22110860	K562	blood:	n/a	n/a
45	CBX3	chr22:22089254-22090916	K562	blood:	n/a	n/a
46	CCNT2	chr22:22108754-22110543	K562	blood:	n/a	n/a
47	CCNT2	chr22:22107699-22108242	K562	blood:	n/a	chr22:22108035-22108044
48	CCNT2	chr22:22089241-22090907	K562	blood:	n/a	n/a
49	CCNT2	chr22:22112657-22113039	K562	blood:	n/a	n/a
50	CEBPB	chr22:22110045-22110591	IMR90	lung:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22089752-22089802	HMEC	breast:	n/a
2	chr22:22089752-22089802	HMEC	breast:	n/a
3	chr22:22090486-22090536	GM12891	blood:	n/a
4	chr22:22090796-22090846	U87	brain:	n/a
5	chr22:22093983-22094033	GM12878	blood:	n/a
6	chr22:22090804-22090854	ECC-1	luminal epithelium:	n/a
7	chr22:22090129-22090179	BJ	skin:	n/a
8	chr22:22089827-22089877	HRPEpiC	eye:	n/a
9	chr22:22090129-22090179	HRCEpiC	kidney:	n/a
10	chr22:22090066-22090116	PrEC	prostate:	n/a
11	chr22:22089368-22089418	GM12892	blood:	n/a
12	chr22:22086335-22086385	Hela-S3	cervix:	n/a
13	chr22:22089827-22089877	HCF	heart:	n/a
14	chr22:22090816-22090866	HEEpiC	esophagus:	n/a
15	chr22:22093983-22094033	PrEC	prostate:	n/a
16	chr22:22090486-22090536	MCF-7	breast:	n/a
17	chr22:22089752-22089802	PANC-1	pancreas:	n/a
18	chr22:22090132-22090182	T-47D	breast:	n/a
19	chr22:22090796-22090846	Jurkat	blood:	n/a
20	chr22:22090124-22090174	BJ	skin:	n/a
21	chr22:22089827-22089877	AG04449	skin:	fetal
22	chr22:22089752-22089802	NHBE	bronchial:	n/a
23	chr22:22090132-22090182	PANC-1	pancreas:	n/a
24	chr22:22089368-22089418	SKMC	muscle:	n/a
25	chr22:22090132-22090182	PFSK-1	brain:	n/a
26	chr22:22089752-22089802	Caco-2	colon:	n/a
27	chr22:22089417-22089467	GM12891	blood:	n/a
28	chr22:22089417-22089467	HRCEpiC	kidney:	n/a
29	chr22:22090486-22090536	NH-A	brain:	n/a
30	chr22:22090796-22090846	Caco-2	colon:	n/a
31	chr22:22089752-22089802	HIPEpiC	eye:	n/a
32	chr22:22089827-22089877	HMEC	breast:	n/a
33	chr22:22093983-22094033	SK-N-MC	brain:	n/a
34	chr22:22090124-22090174	MCF-7	breast:	n/a
35	chr22:22093983-22094033	HEEpiC	esophagus:	n/a
36	chr22:22089417-22089467	CMK	blood:	n/a
37	chr22:22089827-22089877	GM12892	blood:	n/a
38	chr22:22090816-22090866	PFSK-1	brain:	n/a
39	chr22:22089417-22089467	HNPCEpiC	eye:	n/a
40	chr22:22090066-22090116	NHBE	bronchial:	n/a
41	chr22:22090132-22090182	HepG2	liver:	n/a
42	chr22:22089827-22089877	HAEpiC	amniotic membrane:	n/a
43	chr22:22090804-22090854	H1-hESC	embryonic stem cell:	embryo
44	chr22:22090132-22090182	BE2_C	brain:	n/a
45	chr22:22089827-22089877	GM12878	blood:	n/a
46	chr22:22089752-22089802	AG09319	gingival:	n/a
47	chr22:22086335-22086385	SK-N-MC	brain:	n/a
48	chr22:22090066-22090116	PFSK-1	brain:	n/a
49	chr22:22089827-22089877	K562	blood:	n/a
50	chr22:22086335-22086385	HMEC	breast:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:22100397..22102684-chr22:22294462..22297434,2	K562	blood:
2	chr22:22066649..22069201-chr22:22080378..22082874,2	MCF-7	breast:
3	chr22:22110435..22112750-chr22:22276025..22277904,2	K562	blood:
4	chr22:22112784..22115685-chr22:22327730..22329805,2	K562	blood:
5	chr22:22081612..22083911-chr22:22197531..22199059,2	K562	blood:
6	chr22:22108974..22111937-chr22:22177165..22178956,2	K562	blood:
7	chr22:22001036..22002696-chr22:22109195..22111592,2	K562	blood:
8	chr22:22091980..22093601-chr22:22220519..22222560,2	MCF-7	breast:
9	chr22:22080127..22082502-chr22:22094447..22097357,2	K562	blood:
10	chr22:22068417..22069978-chr22:22083536..22086410,2	MCF-7	breast:
11	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
12	chr22:22092924..22094778-chr22:22097040..22099183,2	MCF-7	breast:
13	chr22:22066089..22068465-chr22:22108326..22110815,2	K562	blood:
14	chr22:22089106..22092560-chr22:22306070..22309716,3	K562	blood:
15	chr22:22116046..22118494-chr22:22321132..22322757,2	K562	blood:
16	chr22:22114665..22118629-chr22:22291531..22296432,6	K562	blood:
17	chr22:22099097..22101848-chr22:22220164..22222131,3	K562	blood:
18	chr22:22100635..22103684-chr22:22106701..22109706,3	MCF-7	breast:
19	chr22:22093571..22096168-chr22:22117600..22119106,2	MCF-7	breast:
20	chr22:22107700..22110660-chr22:22291267..22295337,4	K562	blood:
21	chr22:22113640..22116338-chr22:22219617..22223063,5	K562	blood:
22	chr22:22018975..22021803-chr22:22081026..22083922,3	K562	blood:
23	chr22:22079960..22082455-chr22:22217388..22219689,2	K562	blood:
24	chr22:22085275..22087984-chr22:22093360..22095685,2	K562	blood:
25	chr22:22065816..22069479-chr22:22082156..22085627,4	K562	blood:
26	chr22:22108841..22110548-chr22:22265297..22267699,2	K562	blood:
27	chr22:22113720..22119182-chr22:22217815..22224852,8	K562	blood:
28	chr22:22089698..22092001-chr22:22092061..22094877,2	MCF-7	breast:
29	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
30	chr22:21979975..21982573-chr22:22086401..22089371,3	K562	blood:
31	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
32	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
33	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
34	chr22:22100635..22103684-chr22:22106701..22109706,3	MCF-7	breast:
35	chr22:22111218..22112797-chr22:22262465..22264445,2	K562	blood:
36	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:
37	chr22:22108696..22111013-chr22:22279549..22284979,5	K562	blood:
38	chr22:22112086..22114615-chr22:22292655..22295451,3	K562	blood:
39	chr22:22084176..22086091-chr22:22097609..22100060,2	K562	blood:
40	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:
41	chr22:22080117..22083235-chr22:22087991..22091300,5	MCF-7	breast:
42	chr22:22113276..22115731-chr22:22119440..22121595,2	MCF-7	breast:
43	chr22:22085275..22087984-chr22:22093360..22095685,2	K562	blood:
44	chr22:22106546..22109125-chr22:22213093..22217007,3	K562	blood:
45	chr22:22020205..22021766-chr22:22107002..22110319,3	K562	blood:
46	chr22:22092924..22094778-chr22:22097040..22099183,2	MCF-7	breast:
47	chr22:22081671..22084644-chr22:22182581..22185976,3	K562	blood:
48	chr22:22108499..22109538-chr22:22292552..22293177,3	K562	blood:
49	chr22:22090396..22092560-chr22:22305855..22308907,4	K562	blood:
50	chr22:21981226..21984550-chr22:22079610..22083014,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-4	chr22:22105751-22106248	NONHSAT083717
2	lnc-PPIL2-4	chr22:22106358-22106522	NONHSAT083718
3	lnc-PPIL2-4	chr22:22106747-22106918	NONHSAT083718
4	lnc-PPIL2-4	chr22:22107011-22107258	NONHSAT083717
5	lnc-PPIL2-4	chr22:22106747-22106917	NONHSAT083717

No data

Variant related genes	Relation type
YPEL1	TF binding region
RN7SL280P	TF binding region
YPEL1	CpG island
RN7SL280P	CpG island
ENSG00000161180	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000244671	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000093183	chromatin interactions

Extended variants
information (count: 1409 )
Associated
traits (count: 222 )

Variant overlapped rSNPs/rCNVs (count:1409 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549251354	chr22:22082386-22082387	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs192842324	chr22:22082443-22082444	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs556500989	chr22:22082450-22082451	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs141186883	chr22:22082457-22082458	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs534892402	chr22:22082477-22082478	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs557904569	chr22:22082507-22082508	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs577934679	chr22:22082517-22082518	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs537384930	chr22:22082585-22082586	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs5994845	chr22:22082603-22082604	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573604310	chr22:22082609-22082610	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs77528781	chr22:22082624-22082625	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs552794515	chr22:22082636-22082637	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs532249489	chr22:22082659-22082660	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs555898049	chr22:22082729-22082730	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs115962357	chr22:22082760-22082761	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs184102242	chr22:22082763-22082764	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs8135616	chr22:22082788-22082789	Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs117926875	chr22:22082815-22082816	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs561227160	chr22:22082816-22082817	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs9607210	chr22:22082820-22082821	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188391260	chr22:22082844-22082845	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs566065120	chr22:22082875-22082876	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs5994846	chr22:22082919-22082920	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577044996	chr22:22082951-22082952	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs545812619	chr22:22083007-22083008	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs373125441	chr22:22083025-22083026	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs548290074	chr22:22083061-22083062	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs180867822	chr22:22083072-22083073	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs138738604	chr22:22083078-22083079	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs185075140	chr22:22083128-22083129	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs189308553	chr22:22083170-22083171	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs552897801	chr22:22083202-22083203	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs572860345	chr22:22083225-22083226	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs545151315	chr22:22083289-22083290	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs181734349	chr22:22083327-22083328	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs186860495	chr22:22083385-22083386	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs149371062	chr22:22083462-22083463	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs35445089	chr22:22083499-22083500	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs561030376	chr22:22083511-22083512	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs529974366	chr22:22083514-22083515	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs143735077	chr22:22083583-22083584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369235222	chr22:22083588-22083589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531229317	chr22:22083596-22083597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550376917	chr22:22083680-22083681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373995433	chr22:22083682-22083683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559357839	chr22:22083721-22083722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12158519	chr22:22083730-22083731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534439143	chr22:22083732-22083733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs397824645	chr22:22083748-22083749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191256291	chr22:22083764-22083765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:222)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
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
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1290 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
2	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
4	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
6	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
9	chr22:22068600-22082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:22068800-22082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:22069000-22088400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:22069200-22088800	Weak transcription	HSMMtube	muscle
13	chr22:22073600-22088800	Weak transcription	Gastric	stomach
14	chr22:22074000-22085800	Weak transcription	Primary B cells from cord blood	blood
15	chr22:22076400-22088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:22077200-22085000	Weak transcription	Ovary	ovary
17	chr22:22077200-22088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:22080800-22082600	Enhancers	Fetal Brain Male	brain
19	chr22:22080800-22088400	Weak transcription	Fetal Kidney	kidney
20	chr22:22081200-22082400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:22081400-22082400	Weak transcription	Fetal Muscle Leg	muscle
22	chr22:22081400-22082600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:22081400-22083200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr22:22081400-22086000	Weak transcription	Right Atrium	heart
25	chr22:22081400-22087800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:22081400-22088200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:22081400-22088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:22081400-22088800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:22081400-22088800	Weak transcription	Brain Angular Gyrus	brain
30	chr22:22081600-22082400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr22:22081600-22082600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr22:22081600-22086000	Weak transcription	Pancreas	Pancrea
33	chr22:22081600-22088400	Weak transcription	Brain Anterior Caudate	brain
34	chr22:22081600-22088600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:22081600-22088600	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:22081600-22088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:22081800-22082600	Genic enhancers	Brain Germinal Matrix	brain
38	chr22:22081800-22088800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:22082000-22082400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:22082000-22082600	Genic enhancers	Fetal Brain Female	brain
41	chr22:22082000-22082800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:22082000-22084200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:22082200-22082400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr22:22082200-22082400	Genic enhancers	Dnd41	blood
45	chr22:22082200-22082600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:22082200-22082600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:22082200-22082800	ZNF genes & repeats	Lung	lung
48	chr22:22082200-22083000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:22082200-22084400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr22:22082200-22085400	Strong transcription	Fetal Thymus	thymus

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