Variant report

Variant	nsv491683
Chromosome Location	chr1:147228867-147248577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:1038)
Chromatin interactive
region (count:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:147247214-147247439	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:147229432-147229831	ECC-1	luminal epithelium:	n/a	chr1:147229607-147229618
3	CEBPB	chr1:147229334-147229924	MCF-7	breast:	n/a	chr1:147229607-147229618
4	CEBPB	chr1:147229451-147229745	Hela-S3	cervix:	n/a	chr1:147229607-147229618
5	CEBPB	chr1:147229401-147229823	ECC-1	luminal epithelium:	n/a	chr1:147229607-147229618
6	CEBPB	chr1:147229457-147229747	HepG2	liver:	n/a	chr1:147229607-147229618
7	CEBPB	chr1:147229299-147229827	MCF-7	breast:	n/a	chr1:147229607-147229618
8	CTCF	chr1:147230120-147230270	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr1:147229220-147229370	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr1:147244620-147244770	GM12869	blood:	n/a	n/a
11	CTCF	chr1:147244480-147244630	GM12873	blood:	n/a	n/a
12	CTCF	chr1:147248557-147248622	GM20000	blood:	n/a	n/a
13	E2F4	chr1:147229444-147229679	MCF10A-Er-Src	breast:	n/a	n/a
14	EGR1	chr1:147245342-147245530	K562	blood:	n/a	chr1:147245425-147245438 chr1:147245420-147245442
15	EGR1	chr1:147245323-147245562	K562	blood:	n/a	chr1:147245425-147245438 chr1:147245420-147245442
16	EP300	chr1:147230428-147230815	HepG2	liver:	n/a	n/a
17	EP300	chr1:147230630-147230687	HepG2	liver:	n/a	n/a
18	FOS	chr1:147233084-147233375	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:147229395-147230114	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:147233127-147233345	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:147229336-147230115	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:147243346-147243717	HUVEC	blood vessel:	n/a	chr1:147243513-147243524
23	FOS	chr1:147243420-147243657	MCF10A-Er-Src	breast:	n/a	chr1:147243513-147243524
24	FOS	chr1:147233135-147233336	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:147243371-147243674	MCF10A-Er-Src	breast:	n/a	chr1:147243513-147243524
26	FOS	chr1:147229433-147230098	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:147229399-147230109	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:147243370-147243661	MCF10A-Er-Src	breast:	n/a	chr1:147243513-147243524
29	FOXA1	chr1:147229394-147229704	T-47D	breast:	n/a	n/a
30	FOXA1	chr1:147229431-147229823	T-47D	breast:	n/a	n/a
31	GABPA	chr1:147247304-147247393	GM12878	blood:	n/a	n/a
32	GATA2	chr1:147231016-147231341	SH-SY5Y	brain:	n/a	n/a
33	GATA2	chr1:147234368-147235271	HUVEC	blood vessel:	n/a	chr1:147234974-147234988
34	GATA3	chr1:147234717-147235187	T-47D	breast:	n/a	n/a
35	GATA3	chr1:147229348-147229969	T-47D	breast:	n/a	n/a
36	GTF2F1	chr1:147245591-147245672	H1-hESC	embryonic stem cell:	n/a	n/a
37	HDAC2	chr1:147230452-147230692	HepG2	liver:	n/a	n/a
38	HNF4G	chr1:147230457-147230667	HepG2	liver:	n/a	n/a
39	KAP1	chr1:147243491-147244545	U2OS	brain:	n/a	n/a
40	MYC	chr1:147229359-147230115	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr1:147229332-147230128	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr1:147233230-147233464	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr1:147233146-147233336	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr1:147243770-147244152	U87	brain:	n/a	n/a
45	POLR2A	chr1:147234571-147235049	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr1:147231042-147231184	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:147231194-147231195	MCF-7	breast:	n/a	n/a
48	POLR2A	chr1:147247187-147247236	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:147243428-147243463	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr1:147231044-147231184	MCF-7	breast:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:147246839-147246889	PANC-1	pancreas:	n/a
2	chr1:147246839-147246889	PANC-1	pancreas:	n/a
3	chr1:147233743-147233793	H1-hESC	embryonic stem cell:	embryo
4	chr1:147233738-147233788	HCT-116	colon:	n/a
5	chr1:147230209-147230259	Hepatocyte	liver:	n/a
6	chr1:147231524-147231574	HepG2	liver:	n/a
7	chr1:147232608-147232658	ProgFib	skin:	n/a
8	chr1:147245494-147245544	Hepatocyte	liver:	n/a
9	chr1:147245485-147245535	HCF	heart:	n/a
10	chr1:147233738-147233788	MCF-7	breast:	n/a
11	chr1:147246154-147246204	T-47D	breast:	n/a
12	chr1:147246839-147246889	SK-N-MC	brain:	n/a
13	chr1:147231862-147231912	LNCaP	prostate:	n/a
14	chr1:147231061-147231111	HepG2	liver:	n/a
15	chr1:147246839-147246889	HCF	heart:	n/a
16	chr1:147233743-147233793	BJ	skin:	n/a
17	chr1:147246154-147246204	HRPEpiC	eye:	n/a
18	chr1:147231061-147231111	H1-hESC	embryonic stem cell:	embryo
19	chr1:147231061-147231111	ProgFib	skin:	n/a
20	chr1:147233887-147233937	AoSMC	blood vessel:	n/a
21	chr1:147233743-147233793	CMK	blood:	n/a
22	chr1:147233887-147233937	LNCaP	prostate:	n/a
23	chr1:147246329-147246379	Hepatocyte	liver:	n/a
24	chr1:147246329-147246379	IMR90	lung:	fetal
25	chr1:147246839-147246889	PrEC	prostate:	n/a
26	chr1:147232608-147232658	NHBE	bronchial:	n/a
27	chr1:147231524-147231574	AG04449	skin:	fetal
28	chr1:147246154-147246204	HCM	heart:	n/a
29	chr1:147231061-147231111	SAEC	small airway:	n/a
30	chr1:147246154-147246204	CMK	blood:	n/a
31	chr1:147245494-147245544	SAEC	small airway:	n/a
32	chr1:147231524-147231574	GM12878	blood:	n/a
33	chr1:147233110-147233160	SK-N-SH_RA	brain:	n/a
34	chr1:147230209-147230259	NH-A	brain:	n/a
35	chr1:147232608-147232658	GM12891	blood:	n/a
36	chr1:147233887-147233937	NHBE	bronchial:	n/a
37	chr1:147245168-147245218	GM12891	blood:	n/a
38	chr1:147245485-147245535	SKMC	muscle:	n/a
39	chr1:147233743-147233793	NHBE	bronchial:	n/a
40	chr1:147246839-147246889	LNCaP	prostate:	n/a
41	chr1:147233743-147233793	HAEpiC	amniotic membrane:	n/a
42	chr1:147245494-147245544	AG04450	lung:	fetal
43	chr1:147231524-147231574	HIPEpiC	eye:	n/a
44	chr1:147231524-147231574	AG09319	gingival:	n/a
45	chr1:147245485-147245535	HRE	kidney:	n/a
46	chr1:147245485-147245535	AG09319	gingival:	n/a
47	chr1:147231524-147231574	LNCaP	prostate:	n/a
48	chr1:147233738-147233788	HCPEpiC	choroid plexus:	n/a
49	chr1:147246839-147246889	HRCEpiC	kidney:	n/a
50	chr1:147245168-147245218	NHDF-neo	bronchial:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:147240071..147242067-chr1:147245350..147247970,2	MCF-7	breast:
2	chr1:147232773..147235381-chr1:147235921..147238475,2	K562	blood:
3	chr1:147214667..147217419-chr1:147235402..147238099,2	MCF-7	breast:
4	chr1:147243719..147246413-chr1:147246599..147248961,2	MCF-7	breast:
5	chr1:147247003..147248756-chr1:147253569..147255678,2	K562	blood:
6	chr1:147224461..147227120-chr1:147242032..147244708,3	MCF-7	breast:
7	chr1:147229847..147231847-chr1:147237550..147240548,2	MCF-7	breast:
8	chr1:147229847..147231847-chr1:147237550..147240548,2	MCF-7	breast:
9	chr1:147235840..147238345-chr1:147247832..147250076,2	MCF-7	breast:
10	chr1:147234187..147237058-chr1:147240099..147241730,2	MCF-7	breast:
11	chr1:147234853..147236683-chr1:147245113..147247839,2	K562	blood:
12	chr1:147224415..147227866-chr1:147242709..147245199,3	MCF-7	breast:
13	chr1:147234187..147237058-chr1:147240099..147241730,2	MCF-7	breast:
14	chr1:147218454..147220532-chr1:147233214..147234923,2	MCF-7	breast:
15	chr1:147245849..147248322-chr1:147252642..147255104,2	MCF-7	breast:
16	chr1:147233480..147234335-chr7:139299862..139300589,2	MCF-7	breast:
17	chr1:147232773..147235381-chr1:147235921..147238475,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL9-2	chr1:147229426-147229879	ENSG00000234482.1
2	lnc-BCL9-2	chr1:147230462-147230517	ENSG00000234482.1

No data

Variant related genes	Relation type
GJA5	TF binding region
ENSG00000234482	TF binding region
ENSG00000234190	TF binding region
GJA5	CpG island
ENSG00000234482	CpG island
ENSG00000234190	CpG island
ENSG00000143140	chromatin interactions
ENSG00000234190	chromatin interactions

Extended variants
information (count: 682 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11240121	chr1:147228874-147228875	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72702309	chr1:147228907-147228908	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs587736364	chr1:147228997-147228998	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587624199	chr1:147229090-147229091	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369554360	chr1:147229091-147229092	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146147548	chr1:147229121-147229122	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587719205	chr1:147229163-147229164	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113910552	chr1:147229164-147229165	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186143033	chr1:147229173-147229174	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587662296	chr1:147229226-147229227	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111583502	chr1:147229292-147229293	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1043806	chr1:147229299-147229300	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs587757056	chr1:147229329-147229330	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs10900395	chr1:147229382-147229383	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191751867	chr1:147229503-147229504	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
16	rs370924807	chr1:147229504-147229505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
17	rs112410877	chr1:147229514-147229515	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
18	rs1043802	chr1:147229563-147229564	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs587647000	chr1:147229565-147229566	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
20	rs587716397	chr1:147229595-147229596	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
21	rs587595278	chr1:147229604-147229605	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
22	rs587671620	chr1:147229616-147229617	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
23	rs11267274	chr1:147229628-147229629	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
24	rs35666193	chr1:147229629-147229630	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
25	rs587724016	chr1:147229631-147229632	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
26	rs371724095	chr1:147229653-147229654	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
27	rs202133825	chr1:147229654-147229655	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
28	rs375787029	chr1:147229661-147229662	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
29	rs369150521	chr1:147229662-147229663	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
30	rs587655590	chr1:147229693-147229694	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
31	rs587741640	chr1:147229762-147229763	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
32	rs587637864	chr1:147229771-147229772	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
33	rs142269930	chr1:147229775-147229776	Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
34	rs113012133	chr1:147229884-147229885	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs587639962	chr1:147229905-147229906	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs200310520	chr1:147229937-147229938	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs587700428	chr1:147229971-147229972	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs375048257	chr1:147229975-147229976	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs370607116	chr1:147230042-147230043	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587752793	chr1:147230083-147230084	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151235613	chr1:147230138-147230139	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1692141	chr1:147230217-147230218	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201858680	chr1:147230246-147230247	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201046055	chr1:147230248-147230249	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587726447	chr1:147230263-147230264	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147330640	chr1:147230280-147230281	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201657244	chr1:147230282-147230283	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145008952	chr1:147230324-147230325	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139509593	chr1:147230351-147230352	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116551187	chr1:147230352-147230353	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	21131291	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147221400-147229000	Weak transcription	Lung	lung
2	chr1:147221600-147229600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:147223200-147229800	Weak transcription	Spleen	Spleen
4	chr1:147225200-147232200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:147225400-147229200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:147225400-147229200	Weak transcription	Pancreas	Pancrea
7	chr1:147226400-147229000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:147226400-147230000	Weak transcription	Esophagus	oesophagus
9	chr1:147227800-147229600	Flanking Active TSS	Fetal Heart	heart
10	chr1:147228200-147229200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:147228200-147232000	Enhancers	HMEC	breast
12	chr1:147228400-147229200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:147228400-147230000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:147228400-147232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:147228600-147229000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:147228600-147229000	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:147228600-147229200	Flanking Active TSS	Placenta	Placenta
18	chr1:147228600-147229400	Genic enhancers	Fetal Lung	lung
19	chr1:147228600-147229800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:147228600-147229800	Enhancers	Gastric	stomach
21	chr1:147228600-147229800	Enhancers	Left Ventricle	heart
22	chr1:147228600-147230000	Enhancers	Aorta	Aorta
23	chr1:147228600-147230400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:147228600-147230800	Enhancers	NHEK	skin
25	chr1:147228600-147231000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:147228600-147231200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:147228600-147231400	Enhancers	Right Ventricle	heart
28	chr1:147228600-147232000	Weak transcription	Fetal Brain Male	brain
29	chr1:147228600-147232200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:147228600-147232400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:147228600-147235200	Enhancers	Right Atrium	heart
32	chr1:147228800-147230200	Enhancers	HepG2	liver
33	chr1:147228800-147231000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:147228800-147232800	Weak transcription	Psoas Muscle	Psoas
35	chr1:147229000-147229600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:147229000-147229600	Enhancers	Brain Hippocampus Middle	brain
37	chr1:147229000-147230800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:147229000-147233800	Enhancers	Lung	lung
39	chr1:147229000-147234000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:147229200-147229600	Enhancers	Adipose Nuclei	Adipose
41	chr1:147229200-147230200	Enhancers	Placenta	Placenta
42	chr1:147229200-147230200	Enhancers	Hela-S3	cervix
43	chr1:147229200-147233800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:147229200-147234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:147229400-147229600	Enhancers	Pancreas	Pancrea
46	chr1:147229400-147229800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:147229400-147230000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:147229400-147230000	Transcr. at gene 5' and 3'	Fetal Lung	lung
49	chr1:147229400-147230000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:147229600-147229800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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