Variant report

Variant	nsv597076
Chromosome Location	chr5:9542529-9546451
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	ARID3A	chr5:9544631-9544831	HepG2	liver:	n/a	n/a
2	BACH1	chr5:9544681-9546179	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr5:9544506-9544898	GM12878	blood:	n/a	chr5:9544754-9544767
4	BHLHE40	chr5:9544301-9544931	GM12878	blood:	n/a	chr5:9544752-9544768 chr5:9544912-9544928
5	BHLHE40	chr5:9544651-9544847	K562	blood:	n/a	chr5:9544752-9544768
6	BRCA1	chr5:9544535-9544797	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr5:9544595-9544880	K562	blood:	n/a	n/a
8	CCNT2	chr5:9544573-9544913	K562	blood:	n/a	chr5:9544627-9544636 chr5:9544620-9544629
9	CEBPB	chr5:9544604-9544909	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr5:9543436-9543847	IMR90	lung:	n/a	chr5:9543552-9543563
11	CHD1	chr5:9544668-9545207	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr5:9546064-9546142	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr5:9544703-9544814	GM12878	blood:	n/a	n/a
14	CHD2	chr5:9546005-9546199	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr5:9544583-9545042	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr5:9544630-9544928	A549	lung:	n/a	n/a
17	CTBP2	chr5:9544517-9546952	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr5:9544546-9545063	IMR90	lung:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
19	CTCF	chr5:9544587-9545117	GM12892	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
20	CTCF	chr5:9544980-9545130	GM12875	blood:	n/a	n/a
21	CTCF	chr5:9544606-9544940	MCF-7	breast:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
22	CTCF	chr5:9545320-9545470	GM12866	blood:	n/a	n/a
23	CTCF	chr5:9544607-9544834	T-47D	breast:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
24	CTCF	chr5:9544680-9544830	HCFaa	heart:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
25	CTCF	chr5:9545095-9545097	GM19240	blood:	n/a	n/a
26	CTCF	chr5:9544680-9544830	GM12869	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
27	CTCF	chr5:9544680-9544830	BE2_C	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
28	CTCF	chr5:9544623-9544935	GM12878	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
29	CTCF	chr5:9544620-9544932	Gliobla	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
30	CTCF	chr5:9544680-9544830	GM12868	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
31	CTCF	chr5:9546440-9546590	AG09309	skin:	n/a	n/a
32	CTCF	chr5:9544700-9544850	GM12872	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
33	CTCF	chr5:9544700-9544850	MCF-7	breast:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
34	CTCF	chr5:9544653-9544860	ECC-1	luminal epithelium:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
35	CTCF	chr5:9544700-9544850	BE2_C	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
36	CTCF	chr5:9544620-9544770	HCM	heart:	n/a	chr5:9544756-9544769 chr5:9544756-9544769
37	CTCF	chr5:9544680-9544830	GM12865	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
38	CTCF	chr5:9544660-9544810	RPTEC	kidney:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
39	CTCF	chr5:9544637-9544921	ProgFib	skin:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
40	CTCF	chr5:9544700-9544850	GM12871	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
41	CTCF	chr5:9544595-9544958	K562	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
42	CTCF	chr5:9544980-9545093	GM19239	blood:	n/a	n/a
43	CTCF	chr5:9544660-9544810	HVMF	connective:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
44	CTCF	chr5:9544680-9544830	AG10803	skin:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
45	CTCF	chr5:9544700-9544850	NHEK	skin:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
46	CTCF	chr5:9546400-9546550	HFF	foreskin:	n/a	n/a
47	CTCF	chr5:9543380-9543530	Caco-2	colon:	n/a	n/a
48	CTCF	chr5:9544680-9544830	NB4	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
49	CTCF	chr5:9544720-9544870	AG04450	lung:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
50	CTCF	chr5:9544680-9544830	K562	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:9546351-9546401	NT2-D1	testis:	n/a
2	chr5:9544630-9544680	HRCEpiC	kidney:	n/a
3	chr5:9544782-9544832	HCF	heart:	n/a
4	chr5:9546351-9546401	NT2-D1	testis:	n/a
5	chr5:9544630-9544680	HRCEpiC	kidney:	n/a
6	chr5:9544782-9544832	HCF	heart:	n/a
7	chr5:9544693-9544743	GM12892	blood:	n/a
8	chr5:9546404-9546454	Hela-S3	cervix:	n/a
9	chr5:9545395-9545445	IMR90	lung:	fetal
10	chr5:9544693-9544743	PFSK-1	brain:	n/a
11	chr5:9544630-9544680	SK-N-MC	brain:	n/a
12	chr5:9546351-9546401	SAEC	small airway:	n/a
13	chr5:9546335-9546385	H1-hESC	embryonic stem cell:	embryo
14	chr5:9546347-9546397	LNCaP	prostate:	n/a
15	chr5:9544630-9544680	Hepatocyte	liver:	n/a
16	chr5:9543363-9543413	Caco-2	colon:	n/a
17	chr5:9544630-9544680	U87	brain:	n/a
18	chr5:9546351-9546401	ProgFib	skin:	n/a
19	chr5:9544693-9544743	HRCEpiC	kidney:	n/a
20	chr5:9545395-9545445	HRE	kidney:	n/a
21	chr5:9546347-9546397	ProgFib	skin:	n/a
22	chr5:9545976-9546026	U87	brain:	n/a
23	chr5:9546351-9546401	PANC-1	pancreas:	n/a
24	chr5:9544782-9544832	AG09309	skin:	n/a
25	chr5:9546335-9546385	HCM	heart:	n/a
26	chr5:9543363-9543413	LNCaP	prostate:	n/a
27	chr5:9544693-9544743	RPTEC	kidney:	n/a
28	chr5:9545395-9545445	SAEC	small airway:	n/a
29	chr5:9546335-9546385	U87	brain:	n/a
30	chr5:9545395-9545445	MCF-7	breast:	n/a
31	chr5:9546404-9546454	Jurkat	blood:	n/a
32	chr5:9545395-9545445	RPTEC	kidney:	n/a
33	chr5:9543363-9543413	GM12892	blood:	n/a
34	chr5:9545976-9546026	H1-hESC	embryonic stem cell:	embryo
35	chr5:9544693-9544743	H1-hESC	embryonic stem cell:	embryo
36	chr5:9544693-9544743	ECC-1	luminal epithelium:	n/a
37	chr5:9546351-9546401	SK-N-SH	brain:	n/a
38	chr5:9544693-9544743	SK-N-MC	brain:	n/a
39	chr5:9544782-9544832	AG04449	skin:	fetal
40	chr5:9544782-9544832	MCF10A-Er-Src	breast:	n/a
41	chr5:9546404-9546454	NHDF-neo	bronchial:	n/a
42	chr5:9544693-9544743	HAEpiC	amniotic membrane:	n/a
43	chr5:9544693-9544743	Caco-2	colon:	n/a
44	chr5:9545976-9546026	LNCaP	prostate:	n/a
45	chr5:9543363-9543413	GM12878	blood:	n/a
46	chr5:9544693-9544743	SK-N-SH_RA	brain:	n/a
47	chr5:9546351-9546401	GM12878	blood:	n/a
48	chr5:9546404-9546454	A549	lung:	n/a
49	chr5:9543363-9543413	HRCEpiC	kidney:	n/a
50	chr5:9545207-9545257	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:9543479..9545232-chr5:9559885..9561800,2	MCF-7	breast:
2	chr5:9544665..9545301-chr5:9617135..9617797,2	MCF-7	breast:
3	chr5:9522895..9524468-chr5:9544584..9546294,2	MCF-7	breast:
4	chr5:9516858..9517435-chr5:9544318..9545210,4	MCF-7	breast:
5	chr5:9516481..9517369-chr5:9544330..9545219,4	MCF-7	breast:
6	chr5:7896681..7897358-chr5:9544262..9544852,2	K562	blood:
7	chr5:9361616..9362826-chr5:9543590..9545181,8	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCT5-4	chr5:9546312-9546642	ENSG00000250786
2	lnc-CCT5-4	chr5:9546402-9546642	ENSG00000250786
3	lnc-CCT5-4	chr5:9546312-9546642	NR_045196

Variant related genes	Relation type
SEMA5A	TF binding region
SNORD123	TF binding region
SNHG18	TF binding region
SEMA5A	CpG island
SNORD123	CpG island
SNHG18	CpG island
ENSG00000250001	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3798097	chr5:9542529-9542530	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151078182	chr5:9542530-9542531	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140197147	chr5:9542536-9542537	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs533924654	chr5:9542552-9542553	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12055364	chr5:9542567-9542568	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544918399	chr5:9542575-9542576	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs3798098	chr5:9542592-9542593	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542980126	chr5:9542638-9542639	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527294699	chr5:9542661-9542662	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs3798099	chr5:9542673-9542674	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561080094	chr5:9542757-9542758	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531369122	chr5:9542763-9542764	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62342599	chr5:9542772-9542773	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35283088	chr5:9542782-9542783	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549584808	chr5:9542913-9542914	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs182893464	chr5:9542973-9542974	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150315559	chr5:9542979-9542980	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs137920505	chr5:9543008-9543009	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs186864019	chr5:9543018-9543019	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569208271	chr5:9543019-9543020	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs17328863	chr5:9543031-9543032	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs553970292	chr5:9543042-9543043	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs35002859	chr5:9543077-9543078	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574105530	chr5:9543084-9543085	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs460234	chr5:9543134-9543135	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs191751584	chr5:9543135-9543136	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs182704397	chr5:9543157-9543158	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187531033	chr5:9543233-9543234	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs17328904	chr5:9543270-9543271	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs140784003	chr5:9543283-9543284	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs571699956	chr5:9543301-9543302	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541070080	chr5:9543349-9543350	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560800209	chr5:9543363-9543364	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs529833390	chr5:9543411-9543412	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs549629001	chr5:9543427-9543428	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs456885	chr5:9543432-9543433	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs531948434	chr5:9543435-9543436	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs552091162	chr5:9543439-9543440	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144911742	chr5:9543441-9543442	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs138757171	chr5:9543446-9543447	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs17328932	chr5:9543449-9543450	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs371882793	chr5:9543456-9543457	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs567966790	chr5:9543493-9543494	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs141789932	chr5:9543502-9543503	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs536722284	chr5:9543513-9543514	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs432989	chr5:9543580-9543581	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs74982463	chr5:9543585-9543586	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs538487522	chr5:9543591-9543592	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs144553091	chr5:9543616-9543617	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76456360	chr5:9543622-9543623	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9521200-9544400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:9528400-9544200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:9529600-9544400	Weak transcription	Pancreas	Pancrea
4	chr5:9529600-9544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:9530200-9543600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:9530200-9544600	Weak transcription	Lung	lung
7	chr5:9530400-9544200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:9530400-9544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:9533400-9543600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:9534200-9543200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:9534400-9542800	Weak transcription	Fetal Kidney	kidney
12	chr5:9534400-9542800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:9534600-9543000	Weak transcription	Brain Germinal Matrix	brain
14	chr5:9534800-9543000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:9535400-9543000	Weak transcription	Aorta	Aorta
16	chr5:9535800-9544000	Weak transcription	Fetal Stomach	stomach
17	chr5:9536200-9542800	Weak transcription	HMEC	breast
18	chr5:9536200-9543200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:9537400-9544200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:9537600-9543000	Weak transcription	Fetal Lung	lung
21	chr5:9538000-9542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:9538000-9544400	Weak transcription	Liver	Liver
23	chr5:9538600-9544400	Weak transcription	Left Ventricle	heart
24	chr5:9539400-9544400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:9540800-9542600	Enhancers	Fetal Heart	heart
26	chr5:9541000-9543000	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:9541000-9543000	Enhancers	NHDF-Ad	bronchial
28	chr5:9541000-9543200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:9541000-9543200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:9541000-9543200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:9541000-9543200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:9541000-9543200	Weak transcription	Right Atrium	heart
33	chr5:9541000-9544400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:9541200-9542800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:9541200-9542800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:9541200-9542800	Weak transcription	Brain Substantia Nigra	brain
37	chr5:9541200-9543000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:9541400-9542800	Weak transcription	Brain Angular Gyrus	brain
39	chr5:9541400-9543000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:9541400-9543000	Weak transcription	NH-A	brain
41	chr5:9541400-9543000	Enhancers	NHLF	lung
42	chr5:9541400-9543200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:9541400-9543200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:9541600-9543000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:9541600-9543000	Enhancers	Brain Hippocampus Middle	brain
46	chr5:9541800-9543200	Weak transcription	Osteobl	bone
47	chr5:9541800-9543800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:9542000-9542800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:9542000-9543000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:9542000-9543200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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