Variant report

Variant	nsv914583
Chromosome Location	chr22:23723721-23752398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr22:23744648-23745063	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr22:23746888-23747212	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr22:23744217-23744314	K562	blood:	n/a	n/a
4	BHLHE40	chr22:23728117-23728404	GM12878	blood:	n/a	n/a
5	BHLHE40	chr22:23745003-23745056	K562	blood:	n/a	n/a
6	BHLHE40	chr22:23744958-23745145	GM12878	blood:	n/a	chr22:23745054-23745070
7	BRCA1	chr22:23728177-23728379	H1-hESC	embryonic stem cell:	n/a	n/a
8	CCNT2	chr22:23744248-23744361	K562	blood:	n/a	chr22:23744349-23744358
9	CCNT2	chr22:23744595-23745201	K562	blood:	n/a	n/a
10	CEBPB	chr22:23751475-23751656	A549	lung:	n/a	chr22:23751565-23751576
11	CEBPB	chr22:23751463-23751673	HepG2	liver:	n/a	chr22:23751565-23751576
12	CEBPB	chr22:23743400-23743695	IMR90	lung:	n/a	n/a
13	CEBPB	chr22:23751529-23751639	H1-hESC	embryonic stem cell:	n/a	chr22:23751565-23751576
14	CEBPB	chr22:23751439-23751687	IMR90	lung:	n/a	chr22:23751565-23751576
15	CHD2	chr22:23728125-23728366	GM12878	blood:	n/a	n/a
16	CHD2	chr22:23747083-23747102	HepG2	liver:	n/a	n/a
17	CHD2	chr22:23744988-23745147	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr22:23728187-23728423	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr22:23728114-23728387	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr22:23728057-23728438	A549	lung:	n/a	n/a
21	CREB1	chr22:23744835-23745161	A549	lung:	n/a	n/a
22	CTBP2	chr22:23744287-23745184	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr22:23744620-23744770	GM12868	blood:	n/a	n/a
24	CTCF	chr22:23744816-23745251	GM12878	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
25	CTCF	chr22:23744980-23745130	AG10803	skin:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
26	CTCF	chr22:23744940-23745090	HFF-Myc	foreskin:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
27	CTCF	chr22:23744960-23745110	AG04449	skin:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
28	CTCF	chr22:23745000-23745150	Caco-2	colon:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
29	CTCF	chr22:23728497-23728601	GM10266	blood:	n/a	chr22:23728501-23728509
30	CTCF	chr22:23744887-23745294	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
31	CTCF	chr22:23744907-23745142	Fibrobl	skin:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
32	CTCF	chr22:23728220-23728370	HFF-Myc	foreskin:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275
33	CTCF	chr22:23728514-23728611	GM19239	blood:	n/a	n/a
34	CTCF	chr22:23728620-23728770	HCM	heart:	n/a	n/a
35	CTCF	chr22:23744980-23745130	GM12873	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
36	CTCF	chr22:23728220-23728370	HRPEpiC	eye:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275
37	CTCF	chr22:23744878-23745182	K562	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
38	CTCF	chr22:23728094-23728417	MCF-7	breast:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
39	CTCF	chr22:23744960-23745110	GM12871	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
40	CTCF	chr22:23728200-23728350	GM12867	blood:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275
41	CTCF	chr22:23728180-23728330	SK-N-SH_RA	brain:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
42	CTCF	chr22:23744940-23745090	HEK293	kidney:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
43	CTCF	chr22:23744873-23745410	HCT-116	colon:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
44	CTCF	chr22:23727660-23727810	GM12867	blood:	n/a	n/a
45	CTCF	chr22:23728180-23728330	HUVEC	blood vessel:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
46	CTCF	chr22:23745000-23745150	GM06990	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
47	CTCF	chr22:23728200-23728350	AG09309	skin:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275
48	CTCF	chr22:23744920-23745070	HAc	cerebellar:	n/a	chr22:23744976-23744994 chr22:23744979-23744992
49	CTCF	chr22:23728180-23728330	GM12866	blood:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
50	CTCF	chr22:23744980-23745130	GM12864	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23745131-23745181	GM12878	blood:	n/a
2	chr22:23744928-23744978	BE2_C	brain:	n/a
3	chr22:23745076-23745126	PFSK-1	brain:	n/a
4	chr22:23744725-23744775	HCF	heart:	n/a
5	chr22:23745389-23745439	SK-N-SH	brain:	n/a
6	chr22:23730507-23730557	Caco-2	colon:	n/a
7	chr22:23744725-23744775	Caco-2	colon:	n/a
8	chr22:23744725-23744775	ProgFib	skin:	n/a
9	chr22:23744094-23744144	LNCaP	prostate:	n/a
10	chr22:23745131-23745181	HepG2	liver:	n/a
11	chr22:23729011-23729061	MCF-7	breast:	n/a
12	chr22:23744928-23744978	K562	blood:	n/a
13	chr22:23745389-23745439	AG04450	lung:	fetal
14	chr22:23744094-23744144	GM12878	blood:	n/a
15	chr22:23732191-23732241	HepG2	liver:	n/a
16	chr22:23744928-23744978	SAEC	small airway:	n/a
17	chr22:23744717-23744767	IMR90	lung:	fetal
18	chr22:23733812-23733862	AG04449	skin:	fetal
19	chr22:23732191-23732241	NB4	blood:	n/a
20	chr22:23744094-23744144	PrEC	prostate:	n/a
21	chr22:23732191-23732241	H1-hESC	embryonic stem cell:	embryo
22	chr22:23729011-23729061	H1-hESC	embryonic stem cell:	embryo
23	chr22:23732191-23732241	SK-N-MC	brain:	n/a
24	chr22:23744928-23744978	HRPEpiC	eye:	n/a
25	chr22:23744717-23744767	H1-hESC	embryonic stem cell:	embryo
26	chr22:23745131-23745181	HL-60	blood:	n/a
27	chr22:23732191-23732241	AG09309	skin:	n/a
28	chr22:23729011-23729061	HAEpiC	amniotic membrane:	n/a
29	chr22:23744717-23744767	HCPEpiC	choroid plexus:	n/a
30	chr22:23744725-23744775	NH-A	brain:	n/a
31	chr22:23730283-23730333	PrEC	prostate:	n/a
32	chr22:23744717-23744767	ECC-1	luminal epithelium:	n/a
33	chr22:23744094-23744144	NH-A	brain:	n/a
34	chr22:23745131-23745181	HCPEpiC	choroid plexus:	n/a
35	chr22:23744094-23744144	ProgFib	skin:	n/a
36	chr22:23728539-23728589	HCT-116	colon:	n/a
37	chr22:23744717-23744767	RPTEC	kidney:	n/a
38	chr22:23745131-23745181	H1-hESC	embryonic stem cell:	embryo
39	chr22:23745131-23745181	HCT-116	colon:	n/a
40	chr22:23729011-23729061	HIPEpiC	eye:	n/a
41	chr22:23745131-23745181	Jurkat	blood:	n/a
42	chr22:23730283-23730333	SK-N-SH_RA	brain:	n/a
43	chr22:23733812-23733862	RPTEC	kidney:	n/a
44	chr22:23730507-23730557	HIPEpiC	eye:	n/a
45	chr22:23745076-23745126	BE2_C	brain:	n/a
46	chr22:23745076-23745126	U87	brain:	n/a
47	chr22:23727927-23727977	SAEC	small airway:	n/a
48	chr22:23745131-23745181	HRCEpiC	kidney:	n/a
49	chr22:23733812-23733862	NHDF-neo	bronchial:	n/a
50	chr22:23728539-23728589	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:23657846..23658387-chr22:23727772..23728507,2	K562	blood:
2	chr22:20255429..20256076-chr22:23744719..23745345,6	K562	blood:
3	chr22:20255195..20256295-chr22:23744242..23744859,6	MCF-7	breast:
4	chr22:20255555..20256232-chr22:23744733..23745268,3	MCF-7	breast:
5	chr22:23301153..23301965-chr22:23727829..23728713,3	K562	blood:
6	chr22:23301211..23301928-chr22:23727836..23728728,3	MCF-7	breast:
7	chr22:23664524..23665241-chr22:23727504..23728710,4	MCF-7	breast:
8	chr22:23301210..23302026-chr22:23727802..23728448,2	MCF-7	breast:
9	chr22:23656155..23656793-chr22:23727780..23728604,2	MCF-7	breast:
10	chr22:23302255..23302789-chr22:23727921..23728846,2	MCF-7	breast:
11	chr22:23705328..23706086-chr22:23727709..23728285,2	MCF-7	breast:
12	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
13	chr22:23733508..23735532-chr22:23736840..23739183,2	MCF-7	breast:
14	chr22:20255172..20256299-chr22:23744215..23745345,10	MCF-7	breast:
15	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
16	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
17	chr22:20255317..20256206-chr22:23744235..23745365,12	HCT-116	colon:
18	chr22:20255641..20256294-chr22:23744242..23744784,3	Hela-S3	cervix:
19	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:
20	chr22:23728174..23728812-chr22:23881510..23882034,2	K562	blood:
21	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
22	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
23	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-4	chr22:23740265-23740293	NONHSAT083882
2	lnc-IGLL1-4	chr22:23736113-23736244	NONHSAT083882
3	lnc-IGLL1-4	chr22:23732833-23733911	NONHSAT083880
4	lnc-IGLL1-4	chr22:23734772-23735020	NONHSAT083882
5	lnc-IGLL1-4	chr22:23734914-23735064	NONHSAT083880
6	lnc-IGLL1-4	chr22:23741771-23741795	NONHSAT083882

Variant related genes	Relation type
CES5AP1	TF binding region
ZDHHC8P1	TF binding region
ENSG00000248409	TF binding region
CES5AP1	CpG island
ZDHHC8P1	CpG island
ENSG00000248409	CpG island
ENSG00000248409	chromatin interactions
ENSG00000040608	chromatin interactions
ENSG00000214526	chromatin interactions

Extended variants
information (count: 1496 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:1496 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9612340	chr22:23723721-23723722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139495777	chr22:23723733-23723734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181185544	chr22:23723768-23723769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558156737	chr22:23723814-23723815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185625560	chr22:23723847-23723848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374990759	chr22:23723869-23723870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568672136	chr22:23723889-23723890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113850194	chr22:23723901-23723902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557503353	chr22:23723933-23723934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574155109	chr22:23723946-23723947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75445191	chr22:23723951-23723952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554499295	chr22:23723953-23723954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5759759	chr22:23723954-23723955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573423820	chr22:23723961-23723962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112091846	chr22:23723986-23723987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545400577	chr22:23724020-23724021	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565293775	chr22:23724047-23724048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577078948	chr22:23724126-23724127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575465320	chr22:23724127-23724128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367676606	chr22:23724141-23724142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544179728	chr22:23724144-23724145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575702068	chr22:23724150-23724151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151051849	chr22:23724167-23724168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577306765	chr22:23724182-23724183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529839941	chr22:23724185-23724186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546435405	chr22:23724186-23724187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs41296235	chr22:23724218-23724219	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117801694	chr22:23724295-23724296	Genic enhancers Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs5759760	chr22:23724300-23724301	Genic enhancers Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190436882	chr22:23724321-23724322	Genic enhancers Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556107223	chr22:23724343-23724344	Genic enhancers Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568783597	chr22:23724371-23724372	Genic enhancers Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537702937	chr22:23724407-23724408	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551000226	chr22:23724410-23724411	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567993165	chr22:23724445-23724446	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368525630	chr22:23724446-23724447	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs111377596	chr22:23724522-23724523	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573360062	chr22:23724547-23724548	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9624140	chr22:23724612-23724613	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558943902	chr22:23724618-23724619	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs111945768	chr22:23724625-23724626	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs147612278	chr22:23724669-23724670	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371912955	chr22:23724670-23724671	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs182978709	chr22:23724671-23724672	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs386820060	chr22:23724686-23724687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8137941	chr22:23724688-23724689	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs5996530	chr22:23724709-23724710	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142307150	chr22:23724711-23724712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574622325	chr22:23724737-23724738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58942987	chr22:23724738-23724739	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:211)

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

Chromatin state (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23708800-23728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:23722000-23725800	Weak transcription	Spleen	Spleen
3	chr22:23722400-23724600	Enhancers	Gastric	stomach
4	chr22:23722600-23723800	Weak transcription	Placenta	Placenta
5	chr22:23723600-23724200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:23723800-23724400	Enhancers	Placenta	Placenta
7	chr22:23723800-23728600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:23724200-23724400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:23724200-23724400	Enhancers	Ovary	ovary
10	chr22:23724400-23725000	Weak transcription	Ovary	ovary
11	chr22:23724400-23726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:23724600-23725000	Weak transcription	Gastric	stomach
13	chr22:23725000-23725800	Enhancers	Ovary	ovary
14	chr22:23725000-23727000	Enhancers	Gastric	stomach
15	chr22:23725000-23728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:23725200-23725400	Enhancers	Fetal Brain Female	brain
17	chr22:23725200-23726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:23725200-23726200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr22:23725200-23726800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:23725200-23727400	Enhancers	Brain Germinal Matrix	brain
21	chr22:23725200-23728600	Enhancers	Fetal Muscle Leg	muscle
22	chr22:23725200-23728800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:23725400-23736800	Weak transcription	Fetal Brain Female	brain
24	chr22:23725600-23727000	Enhancers	Fetal Intestine Large	intestine
25	chr22:23725600-23727600	Enhancers	Primary hematopoietic stem cells	blood
26	chr22:23725600-23728000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr22:23725600-23728600	Enhancers	Brain Cingulate Gyrus	brain
28	chr22:23725800-23726000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:23725800-23726200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr22:23725800-23726200	Flanking Active TSS	Ovary	ovary
31	chr22:23725800-23726200	Enhancers	Spleen	Spleen
32	chr22:23725800-23726600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:23725800-23726600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr22:23725800-23726600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr22:23725800-23726600	Bivalent Enhancer	Placenta	Placenta
36	chr22:23725800-23726800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr22:23725800-23726800	Enhancers	HSMMtube	muscle
38	chr22:23725800-23727000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr22:23725800-23727000	Enhancers	Brain Substantia Nigra	brain
40	chr22:23725800-23727000	Enhancers	Fetal Lung	lung
41	chr22:23725800-23727400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr22:23725800-23727600	Enhancers	Brain Hippocampus Middle	brain
43	chr22:23725800-23727800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:23726000-23726200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr22:23726000-23726400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr22:23726000-23726400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:23726000-23726400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr22:23726000-23726600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr22:23726000-23726600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr22:23726000-23726600	Bivalent Enhancer	Colonic Mucosa	Colon

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