Variant report

Variant	nsv557354
Chromosome Location	chr12:8850761-8851846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:8850095-8851422	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr12:8851124-8851312	GM12878	blood:	n/a	n/a
3	BHLHE40	chr12:8850214-8851537	K562	blood:	n/a	chr12:8850408-8850424
4	BRCA1	chr12:8851129-8851474	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr12:8850468-8850810	K562	blood:	n/a	n/a
6	CCNT2	chr12:8849895-8851555	K562	blood:	n/a	chr12:8851299-8851308 chr12:8850189-8850198 chr12:8850781-8850790 chr12:8850061-8850070
7	CEBPB	chr12:8850622-8850879	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr12:8851216-8851831	A549	lung:	n/a	n/a
9	CEBPB	chr12:8851567-8851848	K562	blood:	n/a	n/a
10	CEBPB	chr12:8851107-8851943	IMR90	lung:	n/a	n/a
11	CEBPB	chr12:8851074-8851902	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr12:8850684-8850895	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr12:8851378-8851722	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr12:8851196-8851396	H1-hESC	embryonic stem cell:	n/a	chr12:8851336-8851346 chr12:8851299-8851309
15	CHD2	chr12:8851238-8851448	K562	blood:	n/a	chr12:8851336-8851346 chr12:8851299-8851309
16	CHD2	chr12:8849898-8851737	Hela-S3	cervix:	n/a	chr12:8851336-8851346 chr12:8851152-8851162 chr12:8850340-8850350 chr12:8850020-8850030 chr12:8851299-8851309
17	CHD2	chr12:8849700-8850885	H1-hESC	embryonic stem cell:	n/a	chr12:8850340-8850350 chr12:8850020-8850030
18	CHD2	chr12:8850591-8850916	K562	blood:	n/a	n/a
19	CREB1	chr12:8849891-8851185	A549	lung:	n/a	n/a
20	CTBP2	chr12:8849884-8851331	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr12:8851139-8851237	GM19239	blood:	n/a	n/a
22	E2F1	chr12:8850115-8851415	Hela-S3	cervix:	n/a	chr12:8850122-8850134 chr12:8850810-8850820 chr12:8851206-8851215 chr12:8850938-8850952 chr12:8850941-8850955 chr12:8850992-8851002
23	E2F4	chr12:8850469-8850898	MCF10A-Er-Src	breast:	n/a	chr12:8850810-8850820
24	E2F4	chr12:8851117-8851508	MCF10A-Er-Src	breast:	n/a	chr12:8851206-8851215
25	E2F6	chr12:8850524-8851442	A549	lung:	n/a	chr12:8850810-8850820 chr12:8851206-8851215 chr12:8850938-8850952 chr12:8850941-8850955 chr12:8850992-8851002
26	E2F6	chr12:8850474-8850829	K562	blood:	n/a	chr12:8850810-8850820
27	E2F6	chr12:8851033-8851198	K562	blood:	n/a	n/a
28	E2F6	chr12:8850389-8850936	A549	lung:	n/a	chr12:8850810-8850820
29	E2F6	chr12:8850932-8851430	K562	blood:	n/a	chr12:8851206-8851215 chr12:8850938-8850952 chr12:8850941-8850955 chr12:8850992-8851002
30	E2F6	chr12:8849987-8851440	K562	blood:	n/a	chr12:8850122-8850134 chr12:8850810-8850820 chr12:8851206-8851215 chr12:8850938-8850952 chr12:8850941-8850955 chr12:8850992-8851002
31	E2F6	chr12:8850445-8850906	K562	blood:	n/a	chr12:8850810-8850820
32	EGR1	chr12:8850500-8850888	MCF-7	breast:	n/a	chr12:8850577-8850586 chr12:8850561-8850575 chr12:8850579-8850588 chr12:8850627-8850641
33	EGR1	chr12:8850437-8850892	ECC-1	luminal epithelium:	n/a	chr12:8850577-8850586 chr12:8850561-8850575 chr12:8850579-8850588 chr12:8850627-8850641
34	EGR1	chr12:8850450-8851302	K562	blood:	n/a	chr12:8850577-8850586 chr12:8851167-8851177 chr12:8851164-8851177 chr12:8851164-8851177 chr12:8850561-8850575 chr12:8850579-8850588 chr12:8850627-8850641 chr12:8850944-8850954 chr12:8851163-8851178
35	EGR1	chr12:8850467-8850842	K562	blood:	n/a	chr12:8850577-8850586 chr12:8850561-8850575 chr12:8850579-8850588 chr12:8850627-8850641
36	EGR1	chr12:8850460-8850918	ECC-1	luminal epithelium:	n/a	chr12:8850577-8850586 chr12:8850561-8850575 chr12:8850579-8850588 chr12:8850627-8850641
37	EP300	chr12:8851253-8851483	K562	blood:	n/a	n/a
38	ETS1	chr12:8851050-8851368	K562	blood:	n/a	chr12:8851167-8851178 chr12:8851299-8851310
39	FOS	chr12:8851303-8851313	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr12:8851569-8851905	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr12:8851585-8851910	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr12:8851570-8851913	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:8851668-8851905	MCF10A-Er-Src	breast:	n/a	n/a
44	FOXP2	chr12:8850450-8850763	PFSK-1	brain:	n/a	n/a
45	GATA3	chr12:8851582-8851759	SH-SY5Y	brain:	n/a	chr12:8851609-8851619 chr12:8851605-8851626 chr12:8851611-8851621 chr12:8851612-8851619 chr12:8851612-8851621
46	HA-E2F1	chr12:8850079-8851376	Hela-S3	cervix:	n/a	chr12:8850122-8850134 chr12:8850810-8850820 chr12:8851206-8851215 chr12:8850938-8850952 chr12:8850941-8850955 chr12:8850992-8851002
47	HA-E2F1	chr12:8849644-8851531	MCF-7	breast:	n/a	chr12:8850122-8850134 chr12:8850810-8850820 chr12:8851206-8851215 chr12:8850938-8850952 chr12:8850941-8850955 chr12:8850992-8851002
48	HCFC1	chr12:8851100-8851369	K562	blood:	n/a	n/a
49	HCFC1	chr12:8850582-8850884	K562	blood:	n/a	n/a
50	HDAC2	chr12:8850441-8850823	K562	blood:	n/a	chr12:8850578-8850587 chr12:8850576-8850585 chr12:8850580-8850589

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8850719-8850769	NH-A	brain:	n/a
2	chr12:8851234-8851284	HepG2	liver:	n/a
3	chr12:8850719-8850769	GM19239	blood:	n/a
4	chr12:8850719-8850769	GM12891	blood:	n/a
5	chr12:8851234-8851284	GM19239	blood:	n/a
6	chr12:8851234-8851284	ovcar-3	ovarian:	n/a
7	chr12:8850939-8850989	PANC-1	pancreas:	n/a
8	chr12:8850939-8850989	A549	lung:	n/a
9	chr12:8851234-8851284	HRE	kidney:	n/a
10	chr12:8850939-8850989	HEEpiC	esophagus:	n/a
11	chr12:8850939-8850989	HRPEpiC	eye:	n/a
12	chr12:8850939-8850989	GM19239	blood:	n/a
13	chr12:8850939-8850989	SK-N-SH_RA	brain:	n/a
14	chr12:8850939-8850989	HIPEpiC	eye:	n/a
15	chr12:8851234-8851284	PFSK-1	brain:	n/a
16	chr12:8850719-8850769	MCF10A-Er-Src	breast:	n/a
17	chr12:8850939-8850989	MCF-7	breast:	n/a
18	chr12:8850939-8850989	ECC-1	luminal epithelium:	n/a
19	chr12:8850719-8850769	HUVEC	blood vessel:	n/a
20	chr12:8851234-8851284	HNPCEpiC	eye:	n/a
21	chr12:8850939-8850989	RPTEC	kidney:	n/a
22	chr12:8850939-8850989	AG10803	skin:	n/a
23	chr12:8850939-8850989	ProgFib	skin:	n/a
24	chr12:8850719-8850769	NT2-D1	testis:	n/a
25	chr12:8850719-8850769	HCM	heart:	n/a
26	chr12:8850719-8850769	SK-N-SH_RA	brain:	n/a
27	chr12:8850939-8850989	HL-60	blood:	n/a
28	chr12:8851234-8851284	SK-N-MC	brain:	n/a
29	chr12:8850719-8850769	MCF-7	breast:	n/a
30	chr12:8850719-8850769	HCF	heart:	n/a
31	chr12:8850939-8850989	K562	blood:	n/a
32	chr12:8850719-8850769	U87	brain:	n/a
33	chr12:8850939-8850989	HRE	kidney:	n/a
34	chr12:8851234-8851284	NH-A	brain:	n/a
35	chr12:8850939-8850989	GM12891	blood:	n/a
36	chr12:8851234-8851284	SAEC	small airway:	n/a
37	chr12:8851234-8851284	PrEC	prostate:	n/a
38	chr12:8851234-8851284	SKMC	muscle:	n/a
39	chr12:8850719-8850769	BJ	skin:	n/a
40	chr12:8850719-8850769	NHBE	bronchial:	n/a
41	chr12:8850719-8850769	ECC-1	luminal epithelium:	n/a
42	chr12:8850719-8850769	PANC-1	pancreas:	n/a
43	chr12:8850939-8850989	HCF	heart:	n/a
44	chr12:8850939-8850989	PFSK-1	brain:	n/a
45	chr12:8850719-8850769	H1-hESC	embryonic stem cell:	embryo
46	chr12:8850939-8850989	AG09309	skin:	n/a
47	chr12:8851234-8851284	RPTEC	kidney:	n/a
48	chr12:8851234-8851284	AG04450	lung:	fetal
49	chr12:8850939-8850989	AG09319	gingival:	n/a
50	chr12:8851234-8851284	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:8848676..8851094-chr12:8930285..8932392,2	MCF-7	breast:
2	chr12:8849223..8851082-chr12:9101432..9104201,2	K562	blood:
3	chr12:8849321..8851641-chr12:8972402..8975328,2	K562	blood:
4	chr12:8832727..8836231-chr12:8849066..8853020,4	MCF-7	breast:
5	chr12:8850179..8851815-chr12:9101960..9104335,2	MCF-7	breast:
6	chr12:8828310..8831126-chr12:8850757..8852342,2	MCF-7	breast:
7	chr12:8848507..8851298-chr12:9215870..9217959,3	MCF-7	breast:

Variant related genes	Relation type
RIMKLB	TF binding region
RIMKLB	CpG island
ENSG00000166535	chromatin interactions
ENSG00000214851	chromatin interactions
ENSG00000139187	chromatin interactions
ENSG00000245105	chromatin interactions
ENSG00000003056	chromatin interactions
ENSG00000166532	chromatin interactions
ENSG00000256904	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115701524	chr12:8850762-8850763	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs369953246	chr12:8850795-8850796	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs112570458	chr12:8850797-8850798	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs116782838	chr12:8850816-8850817	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs201063396	chr12:8850838-8850839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs373004332	chr12:8850948-8850949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs375772947	chr12:8850982-8850983	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs561766763	chr12:8850984-8850985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs568799910	chr12:8851030-8851031	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs78241246	chr12:8851118-8851119	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs112056543	chr12:8851148-8851149	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs184539932	chr12:8851166-8851167	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs115158006	chr12:8851183-8851184	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs564192177	chr12:8851265-8851266	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs11275581	chr12:8851311-8851312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs1439871	chr12:8851317-8851318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76504789	chr12:8851324-8851325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs78094539	chr12:8851326-8851327	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs190277809	chr12:8851362-8851363	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs77193937	chr12:8851376-8851377	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs549946156	chr12:8851400-8851401	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs1439870	chr12:8851418-8851419	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73053878	chr12:8851452-8851453	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs371199550	chr12:8851491-8851492	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs374823101	chr12:8851517-8851518	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs181892697	chr12:8851538-8851539	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs112143852	chr12:8851549-8851550	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs11046849	chr12:8851557-8851558	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs375437029	chr12:8851558-8851559	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs185824831	chr12:8851604-8851605	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs11046850	chr12:8851607-8851608	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs565824585	chr12:8851643-8851644	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs12297119	chr12:8851655-8851656	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190680464	chr12:8851667-8851668	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs386760117	chr12:8851772-8851773	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs74059961	chr12:8851773-8851774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370315431	chr12:8851817-8851818	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs74406305	chr12:8851840-8851841	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8849000-8852200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:8849000-8852600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:8849200-8851600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:8849200-8851600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:8849200-8851600	Active TSS	HSMM	muscle
6	chr12:8849200-8851800	Active TSS	Fetal Muscle Trunk	muscle
7	chr12:8849200-8852200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:8849200-8852600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:8849200-8852600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:8849200-8852800	Active TSS	Aorta	Aorta
11	chr12:8849400-8851400	Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:8849400-8851600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:8849400-8851600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:8849400-8851600	Active TSS	Fetal Intestine Large	intestine
15	chr12:8849400-8851600	Active TSS	Fetal Stomach	stomach
16	chr12:8849400-8851800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:8849400-8851800	Active TSS	Right Ventricle	heart
18	chr12:8849400-8852400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:8849400-8852800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:8849600-8850800	Active TSS	Liver	Liver
21	chr12:8849600-8851200	Active TSS	Primary hematopoietic stem cells	blood
22	chr12:8849600-8851200	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:8849600-8851200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr12:8849600-8851400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:8849600-8851400	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr12:8849600-8851400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr12:8849600-8851400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:8849600-8851400	Active TSS	Duodenum Mucosa	Duodenum
29	chr12:8849600-8851400	Active TSS	Fetal Brain Male	brain
30	chr12:8849600-8851400	Active TSS	Fetal Lung	lung
31	chr12:8849600-8851400	Active TSS	Pancreas	Pancrea
32	chr12:8849600-8851400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr12:8849600-8851400	Active TSS	Thymus	Thymus
34	chr12:8849600-8851400	Active TSS	Hela-S3	cervix
35	chr12:8849600-8851400	Active TSS	HUVEC	blood vessel
36	chr12:8849600-8851600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:8849600-8851600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:8849600-8851600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:8849600-8851600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:8849600-8851600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr12:8849600-8851600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:8849600-8851600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:8849600-8851600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:8849600-8851600	Active TSS	Brain Hippocampus Middle	brain
45	chr12:8849600-8851600	Active TSS	Colon Smooth Muscle	Colon
46	chr12:8849600-8851600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:8849600-8851600	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:8849600-8851600	Active TSS	A549	lung
49	chr12:8849600-8851600	Active TSS	NHDF-Ad	bronchial
50	chr12:8849600-8851800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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