Variant report

Variant	nsv597073
Chromosome Location	chr5:9533854-9550642
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	BACH1	chr5:9546513-9546837	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr5:9533916-9534464	GM12878	blood:	n/a	chr5:9534431-9534440
5	BCLAF1	chr5:9544506-9544898	GM12878	blood:	n/a	chr5:9544754-9544767
6	BHLHE40	chr5:9544651-9544847	K562	blood:	n/a	chr5:9544752-9544768
7	BHLHE40	chr5:9544301-9544931	GM12878	blood:	n/a	chr5:9544752-9544768 chr5:9544912-9544928
8	BRCA1	chr5:9544535-9544797	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr5:9544595-9544880	K562	blood:	n/a	n/a
10	CCNT2	chr5:9544573-9544913	K562	blood:	n/a	chr5:9544627-9544636 chr5:9544620-9544629
11	CEBPB	chr5:9543436-9543847	IMR90	lung:	n/a	chr5:9543552-9543563
12	CEBPB	chr5:9544604-9544909	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr5:9535027-9535324	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr5:9546640-9546811	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr5:9546064-9546142	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr5:9544668-9545207	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr5:9546005-9546199	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr5:9546508-9546878	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr5:9544703-9544814	GM12878	blood:	n/a	n/a
20	CHD2	chr5:9544583-9545042	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr5:9544630-9544928	A549	lung:	n/a	n/a
22	CTBP2	chr5:9544517-9546952	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr5:9544634-9544897	Medullo	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
24	CTCF	chr5:9544641-9544893	HUVEC	blood vessel:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
25	CTCF	chr5:9545047-9545114	Fibrobl	skin:	n/a	n/a
26	CTCF	chr5:9546640-9546790	HFF	foreskin:	n/a	n/a
27	CTCF	chr5:9544606-9544940	MCF-7	breast:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
28	CTCF	chr5:9544638-9544930	GM10266	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
29	CTCF	chr5:9544660-9544810	HCT-116	colon:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
30	CTCF	chr5:9544663-9544870	HepG2	liver:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
31	CTCF	chr5:9546520-9546670	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr5:9546520-9546670	GM12867	blood:	n/a	n/a
33	CTCF	chr5:9544680-9544830	HAc	cerebellar:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
34	CTCF	chr5:9544680-9544830	K562	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
35	CTCF	chr5:9544720-9544870	GM12870	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
36	CTCF	chr5:9544680-9544830	BE2_C	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
37	CTCF	chr5:9544700-9544850	WERI-Rb-1	eye:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
38	CTCF	chr5:9544980-9545093	GM19239	blood:	n/a	n/a
39	CTCF	chr5:9544647-9544898	GM13976	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
40	CTCF	chr5:9544660-9544810	RPTEC	kidney:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
41	CTCF	chr5:9544660-9544810	Caco-2	colon:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
42	CTCF	chr5:9544700-9544850	HCPEpiC	choroid plexus:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
43	CTCF	chr5:9544578-9544998	A549	lung:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
44	CTCF	chr5:9544546-9545063	IMR90	lung:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
45	CTCF	chr5:9546540-9546690	HRE	kidney:	n/a	n/a
46	CTCF	chr5:9546520-9546670	HMEC	breast:	n/a	n/a
47	CTCF	chr5:9544660-9544810	HRPEpiC	eye:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
48	CTCF	chr5:9544700-9544850	NHEK	skin:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
49	CTCF	chr5:9544982-9545079	GM13977	blood:	n/a	n/a
50	CTCF	chr5:9544660-9544810	HMEC	breast:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:9546695-9546745	PFSK-1	brain:	n/a
2	chr5:9546755-9546805	HNPCEpiC	eye:	n/a
3	chr5:9546695-9546745	PFSK-1	brain:	n/a
4	chr5:9546755-9546805	HNPCEpiC	eye:	n/a
5	chr5:9546404-9546454	HCT-116	colon:	n/a
6	chr5:9546404-9546454	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:9546347-9546397	NH-A	brain:	n/a
8	chr5:9548098-9548148	HRCEpiC	kidney:	n/a
9	chr5:9546347-9546397	MCF-7	breast:	n/a
10	chr5:9543363-9543413	SK-N-SH	brain:	n/a
11	chr5:9540960-9541010	LNCaP	prostate:	n/a
12	chr5:9546335-9546385	AG10803	skin:	n/a
13	chr5:9543363-9543413	GM19239	blood:	n/a
14	chr5:9547825-9547875	HUVEC	blood vessel:	n/a
15	chr5:9549503-9549553	RPTEC	kidney:	n/a
16	chr5:9544693-9544743	MCF-7	breast:	n/a
17	chr5:9549503-9549553	SK-N-SH	brain:	n/a
18	chr5:9547825-9547875	HEK293	kidney:	embryo
19	chr5:9545976-9546026	HRPEpiC	eye:	n/a
20	chr5:9546335-9546385	SKMC	muscle:	n/a
21	chr5:9546335-9546385	GM12892	blood:	n/a
22	chr5:9547825-9547875	HRE	kidney:	n/a
23	chr5:9546755-9546805	RPTEC	kidney:	n/a
24	chr5:9546755-9546805	AG09319	gingival:	n/a
25	chr5:9544782-9544832	HAEpiC	amniotic membrane:	n/a
26	chr5:9546755-9546805	HAEpiC	amniotic membrane:	n/a
27	chr5:9546351-9546401	HCF	heart:	n/a
28	chr5:9543363-9543413	AG04449	skin:	fetal
29	chr5:9545976-9546026	A549	lung:	n/a
30	chr5:9545207-9545257	HRPEpiC	eye:	n/a
31	chr5:9546347-9546397	IMR90	lung:	fetal
32	chr5:9546404-9546454	HL-60	blood:	n/a
33	chr5:9547825-9547875	SK-N-MC	brain:	n/a
34	chr5:9548098-9548148	HEEpiC	esophagus:	n/a
35	chr5:9545395-9545445	NHDF-neo	bronchial:	n/a
36	chr5:9545976-9546026	NB4	blood:	n/a
37	chr5:9545207-9545257	HAEpiC	amniotic membrane:	n/a
38	chr5:9546351-9546401	Jurkat	blood:	n/a
39	chr5:9544630-9544680	PrEC	prostate:	n/a
40	chr5:9547825-9547875	AoSMC	blood vessel:	n/a
41	chr5:9545395-9545445	HNPCEpiC	eye:	n/a
42	chr5:9549503-9549553	NH-A	brain:	n/a
43	chr5:9546695-9546745	SK-N-MC	brain:	n/a
44	chr5:9547468-9547518	MCF10A-Er-Src	breast:	n/a
45	chr5:9544630-9544680	HMEC	breast:	n/a
46	chr5:9546347-9546397	BE2_C	brain:	n/a
47	chr5:9546347-9546397	HEK293	kidney:	embryo
48	chr5:9540960-9541010	HMEC	breast:	n/a
49	chr5:9546351-9546401	SK-N-MC	brain:	n/a
50	chr5:9546347-9546397	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:9546514..9548478-chr5:9550572..9552547,2	K562	blood:
2	chr5:9526489..9528534-chr5:9532164..9534858,2	MCF-7	breast:
3	chr5:9540715..9542331-chr5:9550727..9553558,2	MCF-7	breast:
4	chr5:9546514..9548478-chr5:9550572..9552547,2	K562	blood:
5	chr5:9546585..9548880-chr5:9563821..9566752,2	K562	blood:
6	chr5:9522895..9524468-chr5:9544584..9546294,2	MCF-7	breast:
7	chr5:7896681..7897358-chr5:9544262..9544852,2	K562	blood:
8	chr5:9516858..9517435-chr5:9544318..9545210,4	MCF-7	breast:
9	chr5:9516481..9517369-chr5:9544330..9545219,4	MCF-7	breast:
10	chr5:9544665..9545301-chr5:9617135..9617797,2	MCF-7	breast:
11	chr5:9546333..9547953-chr5:9549365..9551271,2	MCF-7	breast:
12	chr5:9534301..9536161-chr5:9536670..9538887,2	MCF-7	breast:
13	chr5:9543479..9545232-chr5:9559885..9561800,2	MCF-7	breast:
14	chr5:9546664..9548240-chr5:9561037..9563217,2	MCF-7	breast:
15	chr5:9361616..9362826-chr5:9543590..9545181,8	MCF-7	breast:
16	chr5:9534301..9536161-chr5:9536670..9538887,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCT5-4	chr5:9549102-9549261	NR_045196
2	lnc-CCT5-4	chr5:9549414-9550409	NR_045196
3	lnc-CCT5-4	chr5:9546312-9546642	ENSG00000250786
4	lnc-CCT5-4	chr5:9549414-9550721	ENSG00000250786
5	lnc-CCT5-4	chr5:9549102-9549299	NONHSAT100369
6	lnc-CCT5-4	chr5:9549414-9549996	NONHSAT100369
7	lnc-CCT5-4	chr5:9546402-9546642	ENSG00000250786
8	lnc-CCT5-4	chr5:9546312-9546642	NR_045196
9	lnc-CCT5-4	chr5:9549102-9549702	ENSG00000250786
10	lnc-CCT5-4	chr5:9548191-9550410	NONHSAT100370
11	lnc-CCT5-4	chr5:9549102-9549261	ENSG00000250786
12	lnc-CCT5-4	chr5:9546459-9546642	NONHSAT100369

Variant related genes	Relation type
SNORD123	TF binding region
SNHG18	TF binding region
SEMA5A	TF binding region
SNORD123	CpG island
SNHG18	CpG island
SEMA5A	CpG island
ENSG00000250001	chromatin interactions
ENSG00000250786	chromatin interactions

Extended variants
information (count: 707 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs268550	chr5:9533854-9533855	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568255872	chr5:9533878-9533879	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536850686	chr5:9533924-9533925	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557147649	chr5:9533964-9533965	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577045736	chr5:9533967-9533968	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149615094	chr5:9533975-9533976	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560236641	chr5:9534048-9534049	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145395418	chr5:9534052-9534053	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572830023	chr5:9534057-9534058	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77463365	chr5:9534069-9534070	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543195751	chr5:9534172-9534173	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs268551	chr5:9534206-9534207	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35416476	chr5:9534309-9534310	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575347472	chr5:9534336-9534337	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543634953	chr5:9534337-9534338	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185198988	chr5:9534350-9534351	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532617265	chr5:9534356-9534357	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs78742680	chr5:9534366-9534367	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3756737	chr5:9534392-9534393	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528456212	chr5:9534429-9534430	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530406113	chr5:9534493-9534494	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548225107	chr5:9534518-9534519	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568193209	chr5:9534527-9534528	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188115707	chr5:9534595-9534596	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550810050	chr5:9534601-9534602	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149204365	chr5:9534643-9534644	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539261667	chr5:9534662-9534663	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553263459	chr5:9534671-9534672	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548935823	chr5:9534678-9534679	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566813810	chr5:9534688-9534689	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367738370	chr5:9534691-9534692	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191758687	chr5:9534703-9534704	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368976633	chr5:9534726-9534727	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555432804	chr5:9534747-9534748	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563712547	chr5:9534817-9534818	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184093931	chr5:9534830-9534831	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544265515	chr5:9534833-9534834	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573101127	chr5:9534840-9534841	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs268552	chr5:9534847-9534848	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs375260798	chr5:9534855-9534856	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546024969	chr5:9534862-9534863	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559615569	chr5:9534866-9534867	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113121586	chr5:9534912-9534913	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541804287	chr5:9534942-9534943	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560450914	chr5:9534989-9534990	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562078445	chr5:9534991-9534992	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530834329	chr5:9535017-9535018	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139204366	chr5:9535026-9535027	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527707560	chr5:9535058-9535059	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188089614	chr5:9535091-9535092	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	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:973 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9513000-9535200	Weak transcription	Aorta	Aorta
2	chr5:9521200-9544400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:9524000-9534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:9525400-9542000	Weak transcription	Small Intestine	intestine
5	chr5:9528400-9544200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:9529600-9534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:9529600-9534200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:9529600-9534600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:9529600-9544400	Weak transcription	Pancreas	Pancrea
10	chr5:9529600-9544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:9530200-9534600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:9530200-9543600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:9530200-9544600	Weak transcription	Lung	lung
14	chr5:9530400-9534200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:9530400-9544200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:9530400-9544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:9531800-9534000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:9531800-9534200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:9531800-9534200	Weak transcription	Left Ventricle	heart
20	chr5:9532000-9534600	Weak transcription	Right Atrium	heart
21	chr5:9532000-9536000	Weak transcription	Right Ventricle	heart
22	chr5:9532800-9534200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:9532800-9534200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:9532800-9534200	Enhancers	NH-A	brain
25	chr5:9532800-9536000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:9533000-9534000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:9533000-9534000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:9533000-9534400	Enhancers	Fetal Kidney	kidney
29	chr5:9533000-9534400	Enhancers	Osteobl	bone
30	chr5:9533000-9534600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:9533000-9536200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:9533000-9536200	Enhancers	NHDF-Ad	bronchial
33	chr5:9533200-9534200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:9533200-9534800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:9533400-9534000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:9533400-9534200	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:9533400-9534200	Enhancers	Fetal Heart	heart
38	chr5:9533400-9534600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:9533400-9535000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:9533400-9535200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:9533400-9535400	Weak transcription	Fetal Stomach	stomach
42	chr5:9533400-9537000	Weak transcription	Fetal Lung	lung
43	chr5:9533400-9543600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:9533600-9534000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:9533600-9534000	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:9533600-9534000	Weak transcription	HMEC	breast
47	chr5:9533600-9534200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:9533600-9535000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:9533600-9535000	Weak transcription	Brain Anterior Caudate	brain
50	chr5:9533800-9534000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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