Variant report

Variant	esv1817081
Chromosome Location	chr5:9539540-9546451
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	chr5:9544583-9545042	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr5:9544703-9544814	GM12878	blood:	n/a	n/a
15	CHD2	chr5:9546005-9546199	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	chr5:9544620-9544932	Gliobla	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
19	CTCF	chr5:9544680-9544830	GM12866	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
20	CTCF	chr5:9544680-9544830	HBMEC	blood vessel:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
21	CTCF	chr5:9544632-9544910	MCF-7	breast:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
22	CTCF	chr5:9544700-9544850	HUVEC	blood vessel:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
23	CTCF	chr5:9544700-9544850	GM12865	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
24	CTCF	chr5:9543380-9543530	Caco-2	colon:	n/a	n/a
25	CTCF	chr5:9544980-9545130	GM12868	blood:	n/a	n/a
26	CTCF	chr5:9544720-9544870	NHDF-neo	bronchial:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
27	CTCF	chr5:9544680-9544830	GM12869	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
28	CTCF	chr5:9546178-9546188	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr5:9544600-9544750	HFF	foreskin:	n/a	n/a
30	CTCF	chr5:9544720-9544870	HA-sp	spinal cord:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
31	CTCF	chr5:9544660-9544810	HRPEpiC	eye:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
32	CTCF	chr5:9544577-9544925	SK-N-SH_RA	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
33	CTCF	chr5:9544613-9544927	GM13977	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
34	CTCF	chr5:9545300-9545450	WERI-Rb-1	eye:	n/a	chr5:9545302-9545315
35	CTCF	chr5:9544622-9544925	Fibrobl	skin:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
36	CTCF	chr5:9544720-9544870	HFF-Myc	foreskin:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
37	CTCF	chr5:9544700-9544850	SK-N-SH_RA	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
38	CTCF	chr5:9544595-9544973	MCF-7	breast:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
39	CTCF	chr5:9544639-9544911	Pancreas_OC	pancreas:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
40	CTCF	chr5:9544652-9544887	LNCaP	prostate:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
41	CTCF	chr5:9545320-9545470	GM12866	blood:	n/a	n/a
42	CTCF	chr5:9544420-9544980	K562	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
43	CTCF	chr5:9544680-9544830	NB4	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
44	CTCF	chr5:9544660-9544810	RPTEC	kidney:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
45	CTCF	chr5:9544660-9544810	HVMF	connective:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
46	CTCF	chr5:9545012-9545081	GM12878	blood:	n/a	n/a
47	CTCF	chr5:9544630-9544881	SK-N-SH_RA	brain:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
48	CTCF	chr5:9544522-9544938	K562	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
49	CTCF	chr5:9544680-9544830	GM12867	blood:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772
50	CTCF	chr5:9544700-9544850	AoAF	blood vessel:	n/a	chr5:9544755-9544771 chr5:9544756-9544769 chr5:9544756-9544769 chr5:9544754-9544772

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:9545207-9545257	GM12891	blood:	n/a
2	chr5:9545207-9545257	CMK	blood:	n/a
3	chr5:9545207-9545257	GM12891	blood:	n/a
4	chr5:9545207-9545257	CMK	blood:	n/a
5	chr5:9545207-9545257	AG04450	lung:	fetal
6	chr5:9546351-9546401	NHBE	bronchial:	n/a
7	chr5:9546347-9546397	AG04449	skin:	fetal
8	chr5:9544693-9544743	NB4	blood:	n/a
9	chr5:9543363-9543413	GM06990	blood:	n/a
10	chr5:9546347-9546397	HCT-116	colon:	n/a
11	chr5:9545976-9546026	NHBE	bronchial:	n/a
12	chr5:9544782-9544832	RPTEC	kidney:	n/a
13	chr5:9546404-9546454	HAEpiC	amniotic membrane:	n/a
14	chr5:9546351-9546401	HNPCEpiC	eye:	n/a
15	chr5:9546404-9546454	HCPEpiC	choroid plexus:	n/a
16	chr5:9545207-9545257	HPAEpiC	pulmonary alveolar:	n/a
17	chr5:9544693-9544743	MCF10A-Er-Src	breast:	n/a
18	chr5:9544630-9544680	HIPEpiC	eye:	n/a
19	chr5:9540960-9541010	IMR90	lung:	fetal
20	chr5:9544630-9544680	A549	lung:	n/a
21	chr5:9540960-9541010	MCF-7	breast:	n/a
22	chr5:9540960-9541010	HL-60	blood:	n/a
23	chr5:9544782-9544832	AoSMC	blood vessel:	n/a
24	chr5:9546347-9546397	SAEC	small airway:	n/a
25	chr5:9545395-9545445	SK-N-SH_RA	brain:	n/a
26	chr5:9544782-9544832	PrEC	prostate:	n/a
27	chr5:9545395-9545445	AG04449	skin:	fetal
28	chr5:9543363-9543413	IMR90	lung:	fetal
29	chr5:9546351-9546401	GM12891	blood:	n/a
30	chr5:9546404-9546454	BE2_C	brain:	n/a
31	chr5:9544693-9544743	HRE	kidney:	n/a
32	chr5:9545976-9546026	BE2_C	brain:	n/a
33	chr5:9544630-9544680	HRPEpiC	eye:	n/a
34	chr5:9545976-9546026	GM19239	blood:	n/a
35	chr5:9543363-9543413	HCPEpiC	choroid plexus:	n/a
36	chr5:9540960-9541010	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:9546347-9546397	A549	lung:	n/a
38	chr5:9543363-9543413	GM19239	blood:	n/a
39	chr5:9546335-9546385	A549	lung:	n/a
40	chr5:9546404-9546454	MCF10A-Er-Src	breast:	n/a
41	chr5:9540960-9541010	GM12892	blood:	n/a
42	chr5:9543363-9543413	ovcar-3	ovarian:	n/a
43	chr5:9546351-9546401	A549	lung:	n/a
44	chr5:9540960-9541010	NHDF-neo	bronchial:	n/a
45	chr5:9545976-9546026	SK-N-SH_RA	brain:	n/a
46	chr5:9546351-9546401	AG04449	skin:	fetal
47	chr5:9540960-9541010	PrEC	prostate:	n/a
48	chr5:9544782-9544832	HCPEpiC	choroid plexus:	n/a
49	chr5:9546347-9546397	Caco-2	colon:	n/a
50	chr5:9540960-9541010	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:9543479..9545232-chr5:9559885..9561800,2	MCF-7	breast:
2	chr5:9516858..9517435-chr5:9544318..9545210,4	MCF-7	breast:
3	chr5:9522895..9524468-chr5:9544584..9546294,2	MCF-7	breast:
4	chr5:9516481..9517369-chr5:9544330..9545219,4	MCF-7	breast:
5	chr5:9540715..9542331-chr5:9550727..9553558,2	MCF-7	breast:
6	chr5:9361616..9362826-chr5:9543590..9545181,8	MCF-7	breast:
7	chr5:9544665..9545301-chr5:9617135..9617797,2	MCF-7	breast:
8	chr5:7896681..7897358-chr5:9544262..9544852,2	K562	blood:

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
SNORD123	TF binding region
SNHG18	TF binding region
SEMA5A	TF binding region
SNORD123	CpG island
SNHG18	CpG island
SEMA5A	CpG island
ENSG00000250001	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6881628	chr5:9539540-9539541	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556978064	chr5:9539570-9539571	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191102991	chr5:9539579-9539580	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545854466	chr5:9539594-9539595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553099818	chr5:9539602-9539603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11951779	chr5:9539679-9539680	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs562719630	chr5:9539762-9539763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541622672	chr5:9539787-9539788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561499245	chr5:9539823-9539824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74632925	chr5:9539839-9539840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375921647	chr5:9539882-9539883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6882326	chr5:9539938-9539939	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6882340	chr5:9539960-9539961	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs552202458	chr5:9539962-9539963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377490389	chr5:9539966-9539967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184390606	chr5:9539976-9539977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11958229	chr5:9539989-9539990	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs78826326	chr5:9540002-9540003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs115770475	chr5:9540008-9540009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190498994	chr5:9540021-9540022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371065261	chr5:9540087-9540088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75995794	chr5:9540100-9540101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539418866	chr5:9540108-9540109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193121932	chr5:9540162-9540163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572893292	chr5:9540166-9540167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541882108	chr5:9540182-9540183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137863325	chr5:9540222-9540223	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35890737	chr5:9540233-9540234	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185809456	chr5:9540239-9540240	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543700989	chr5:9540261-9540262	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142683392	chr5:9540273-9540274	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557994883	chr5:9540274-9540275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577858259	chr5:9540278-9540279	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546100710	chr5:9540283-9540284	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71597593	chr5:9540286-9540287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11958932	chr5:9540296-9540297	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548621537	chr5:9540298-9540299	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189022593	chr5:9540314-9540315	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530144484	chr5:9540335-9540336	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530729630	chr5:9540382-9540383	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6873042	chr5:9540411-9540412	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13179172	chr5:9540424-9540425	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181734630	chr5:9540430-9540431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146019644	chr5:9540467-9540468	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs539709712	chr5:9540473-9540474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185699517	chr5:9540483-9540484	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13179291	chr5:9540498-9540499	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535117379	chr5:9540529-9540530	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3777369	chr5:9540544-9540545	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550162267	chr5:9540545-9540546	Weak transcription Strong transcription Enhancers Genic enhancers	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:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9521200-9544400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:9525400-9542000	Weak transcription	Small Intestine	intestine
3	chr5:9528400-9544200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:9529600-9544400	Weak transcription	Pancreas	Pancrea
5	chr5:9529600-9544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:9530200-9543600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:9530200-9544600	Weak transcription	Lung	lung
8	chr5:9530400-9544200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:9530400-9544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:9533400-9543600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:9534200-9540200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:9534200-9543200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:9534400-9540600	Weak transcription	Osteobl	bone
14	chr5:9534400-9542800	Weak transcription	Fetal Kidney	kidney
15	chr5:9534400-9542800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:9534600-9543000	Weak transcription	Brain Germinal Matrix	brain
17	chr5:9534800-9543000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:9535200-9540200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:9535400-9540800	Weak transcription	NH-A	brain
20	chr5:9535400-9543000	Weak transcription	Aorta	Aorta
21	chr5:9535800-9544000	Weak transcription	Fetal Stomach	stomach
22	chr5:9536000-9542400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:9536200-9540200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:9536200-9542800	Weak transcription	HMEC	breast
25	chr5:9536200-9543200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:9537200-9540200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:9537200-9540600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:9537400-9544200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:9537600-9543000	Weak transcription	Fetal Lung	lung
30	chr5:9538000-9542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:9538000-9544400	Weak transcription	Liver	Liver
32	chr5:9538200-9540200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:9538200-9540600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:9538200-9540800	Weak transcription	Brain Substantia Nigra	brain
35	chr5:9538200-9541000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:9538200-9541000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:9538600-9544400	Weak transcription	Left Ventricle	heart
38	chr5:9538800-9540200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:9538800-9540600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:9538800-9540800	Weak transcription	Fetal Heart	heart
41	chr5:9538800-9540800	Weak transcription	NHDF-Ad	bronchial
42	chr5:9539000-9540800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:9539200-9540600	Weak transcription	NHLF	lung
44	chr5:9539400-9539600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:9539400-9539800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:9539400-9539800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:9539400-9540000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:9539400-9540200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:9539400-9540200	Weak transcription	Right Atrium	heart
50	chr5:9539400-9540600	Weak transcription	Brain Anterior Caudate	brain

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