Variant report

Variant	esv3325612
Chromosome Location	chr1:171809554-171812102
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	ATF2	chr1:171810038-171810496	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:171810155-171810484	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:171810966-171811046	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:171810095-171810932	K562	blood:	n/a	chr1:171810392-171810408 chr1:171810698-171810714
5	BRCA1	chr1:171810161-171810296	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr1:171810164-171810813	K562	blood:	n/a	n/a
7	CCNT2	chr1:171810329-171811064	K562	blood:	n/a	n/a
8	CEBPB	chr1:171810188-171810545	Hela-S3	cervix:	n/a	n/a
9	CHD1	chr1:171810686-171810818	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr1:171810361-171810725	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr1:171810066-171810772	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr1:171810296-171810846	A549	lung:	n/a	n/a
13	CTBP2	chr1:171809927-171811753	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:171810300-171810450	GM12875	blood:	n/a	n/a
15	CTCF	chr1:171810891-171810917	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr1:171810360-171810510	SAEC	small airway:	n/a	chr1:171810485-171810498
17	CTCF	chr1:171810160-171810310	AG04449	skin:	n/a	n/a
18	CTCF	chr1:171810260-171810410	RPTEC	kidney:	n/a	n/a
19	CTCF	chr1:171810588-171810736	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr1:171810440-171810590	AG04449	skin:	n/a	chr1:171810485-171810498
21	CTCF	chr1:171811744-171811785	ProgFib	skin:	n/a	n/a
22	CTCF	chr1:171810900-171811050	Caco-2	colon:	n/a	n/a
23	CTCF	chr1:171810200-171810350	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr1:171810780-171810930	GM12873	blood:	n/a	n/a
25	CTCF	chr1:171810880-171811030	BJ	skin:	n/a	n/a
26	CTCF	chr1:171810600-171810750	HMEC	breast:	n/a	n/a
27	CTCF	chr1:171810289-171810346	NHEK	skin:	n/a	n/a
28	CTCF	chr1:171810380-171810530	HCPEpiC	choroid plexus:	n/a	chr1:171810485-171810498
29	CTCF	chr1:171810260-171810410	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr1:171810320-171810470	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr1:171810340-171810490	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr1:171810760-171810910	GM12869	blood:	n/a	n/a
33	E2F4	chr1:171810368-171810831	MCF10A-Er-Src	breast:	n/a	chr1:171810608-171810617 chr1:171810656-171810665
34	E2F6	chr1:171810312-171811051	K562	blood:	n/a	chr1:171810608-171810617 chr1:171810656-171810665
35	E2F6	chr1:171810212-171810968	A549	lung:	n/a	chr1:171810608-171810617 chr1:171810656-171810665
36	E2F6	chr1:171810340-171811027	K562	blood:	n/a	chr1:171810608-171810617 chr1:171810656-171810665
37	E2F6	chr1:171810476-171810766	K562	blood:	n/a	chr1:171810608-171810617 chr1:171810656-171810665
38	EBF1	chr1:171811957-171812078	GM12878	blood:	n/a	n/a
39	EGR1	chr1:171810383-171810689	K562	blood:	n/a	chr1:171810608-171810617 chr1:171810506-171810515 chr1:171810561-171810575
40	EGR1	chr1:171810389-171810679	K562	blood:	n/a	chr1:171810608-171810617 chr1:171810506-171810515 chr1:171810561-171810575
41	EGR1	chr1:171810465-171810648	GM12878	blood:	n/a	chr1:171810608-171810617 chr1:171810506-171810515 chr1:171810561-171810575
42	ELF1	chr1:171810228-171810578	K562	blood:	n/a	chr1:171810417-171810430
43	ELF1	chr1:171810186-171810940	GM12878	blood:	n/a	chr1:171810693-171810705 chr1:171810417-171810430
44	ETS1	chr1:171810233-171810524	A549	lung:	n/a	chr1:171810258-171810271 chr1:171810415-171810426 chr1:171810257-171810270
45	FOXP2	chr1:171810175-171811031	PFSK-1	brain:	n/a	n/a
46	GATA2	chr1:171809725-171811031	SH-SY5Y	brain:	n/a	n/a
47	GTF2F1	chr1:171810310-171810502	Hela-S3	cervix:	n/a	n/a
48	GTF2F1	chr1:171810204-171810522	H1-hESC	embryonic stem cell:	n/a	n/a
49	GTF2F1	chr1:171810766-171810855	H1-hESC	embryonic stem cell:	n/a	n/a
50	HCFC1	chr1:171810308-171810798	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171810543-171810593	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:171810543-171810593	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:171810433-171810483	HNPCEpiC	eye:	n/a
4	chr1:171810105-171810155	A549	lung:	n/a
5	chr1:171810433-171810483	HCPEpiC	choroid plexus:	n/a
6	chr1:171810433-171810483	NHBE	bronchial:	n/a
7	chr1:171810543-171810593	HIPEpiC	eye:	n/a
8	chr1:171810543-171810593	PANC-1	pancreas:	n/a
9	chr1:171810433-171810483	MCF10A-Er-Src	breast:	n/a
10	chr1:171810433-171810483	A549	lung:	n/a
11	chr1:171810322-171810372	Hepatocyte	liver:	n/a
12	chr1:171810972-171811022	AoSMC	blood vessel:	n/a
13	chr1:171810972-171811022	GM12878	blood:	n/a
14	chr1:171811299-171811349	AG09309	skin:	n/a
15	chr1:171810433-171810483	SKMC	muscle:	n/a
16	chr1:171810322-171810372	ECC-1	luminal epithelium:	n/a
17	chr1:171810105-171810155	HepG2	liver:	n/a
18	chr1:171810376-171810426	HRPEpiC	eye:	n/a
19	chr1:171810300-171810350	ovcar-3	ovarian:	n/a
20	chr1:171810376-171810426	GM12891	blood:	n/a
21	chr1:171809804-171809854	ECC-1	luminal epithelium:	n/a
22	chr1:171810376-171810426	HRCEpiC	kidney:	n/a
23	chr1:171810972-171811022	AG09319	gingival:	n/a
24	chr1:171810543-171810593	AG04449	skin:	fetal
25	chr1:171809804-171809854	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:171809804-171809854	HEEpiC	esophagus:	n/a
27	chr1:171811477-171811527	U87	brain:	n/a
28	chr1:171810468-171810518	PrEC	prostate:	n/a
29	chr1:171811477-171811527	MCF10A-Er-Src	breast:	n/a
30	chr1:171810543-171810593	AG09309	skin:	n/a
31	chr1:171810300-171810350	AG09309	skin:	n/a
32	chr1:171810543-171810593	AoSMC	blood vessel:	n/a
33	chr1:171809804-171809854	GM12878	blood:	n/a
34	chr1:171810778-171810828	CMK	blood:	n/a
35	chr1:171810972-171811022	HCPEpiC	choroid plexus:	n/a
36	chr1:171811299-171811349	ECC-1	luminal epithelium:	n/a
37	chr1:171810972-171811022	T-47D	breast:	n/a
38	chr1:171810376-171810426	GM06990	blood:	n/a
39	chr1:171811529-171811579	GM12878	blood:	n/a
40	chr1:171810322-171810372	GM12892	blood:	n/a
41	chr1:171810972-171811022	HNPCEpiC	eye:	n/a
42	chr1:171810543-171810593	GM12892	blood:	n/a
43	chr1:171810300-171810350	HAEpiC	amniotic membrane:	n/a
44	chr1:171810570-171810620	SAEC	small airway:	n/a
45	chr1:171810300-171810350	Caco-2	colon:	n/a
46	chr1:171810105-171810155	HUVEC	blood vessel:	n/a
47	chr1:171810322-171810372	HIPEpiC	eye:	n/a
48	chr1:171810433-171810483	GM19239	blood:	n/a
49	chr1:171811529-171811579	HepG2	liver:	n/a
50	chr1:171810468-171810518	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:11969663..11970170-chr1:171810089..171811020,2	HCT-116	colon:
2	chr1:171810010..171810826-chr15:65588123..65588647,2	Hela-S3	cervix:
3	chr1:171808145..171810484-chr1:171812590..171815013,2	MCF-7	breast:

Variant related genes	Relation type
DNM3	TF binding region
DNM3	CpG island
ENSG00000201801	chromatin interactions
ENSG00000199568	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549619817	chr1:171809561-171809562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561435420	chr1:171809662-171809663	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs370385687	chr1:171809697-171809698	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531685375	chr1:171809717-171809718	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11583673	chr1:171809720-171809721	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571709401	chr1:171809725-171809726	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539113523	chr1:171809759-171809760	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374192265	chr1:171809789-171809790	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547933902	chr1:171809804-171809805	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs565844451	chr1:171809878-171809879	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs146998098	chr1:171809946-171809947	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111398629	chr1:171809953-171809954	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6701033	chr1:171809976-171809977	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs78504679	chr1:171810019-171810020	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375540040	chr1:171810055-171810056	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11420460	chr1:171810057-171810058	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs67218407	chr1:171810058-171810059	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114201947	chr1:171810106-171810107	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs76452111	chr1:171810155-171810156	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs559040039	chr1:171810159-171810160	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs373178523	chr1:171810229-171810230	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs575988916	chr1:171810242-171810243	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs542857207	chr1:171810286-171810287	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs28411002	chr1:171810297-171810298	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545319868	chr1:171810301-171810302	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs28396226	chr1:171810329-171810330	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs61808984	chr1:171810367-171810368	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs531903288	chr1:171810446-171810447	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs544130603	chr1:171810477-171810478	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs142211926	chr1:171810517-171810518	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs113619787	chr1:171810562-171810563	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs572560193	chr1:171810599-171810600	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544635074	chr1:171810600-171810601	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs532566178	chr1:171810623-171810624	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs547868812	chr1:171810672-171810673	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs114247451	chr1:171810682-171810683	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371499940	chr1:171810694-171810695	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371816248	chr1:171810779-171810780	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376123360	chr1:171810829-171810830	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369144398	chr1:171810839-171810840	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373374370	chr1:171810862-171810863	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375449968	chr1:171810901-171810902	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200969795	chr1:171810904-171810905	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569863675	chr1:171810925-171810926	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12239702	chr1:171810960-171810961	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373357481	chr1:171810963-171810964	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376508475	chr1:171810966-171810967	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558450227	chr1:171810970-171810971	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200086525	chr1:171810975-171810976	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs202136326	chr1:171810987-171810988	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171796400-171809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:171796600-171810000	Weak transcription	Pancreas	Pancrea
3	chr1:171803000-171809800	Weak transcription	NHDF-Ad	bronchial
4	chr1:171804400-171810200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:171809600-171809800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:171809600-171809800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:171809600-171809800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr1:171809600-171809800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:171809600-171809800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:171809600-171809800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:171809600-171809800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:171809600-171809800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:171809600-171809800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:171809600-171809800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:171809600-171809800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:171809600-171809800	Enhancers	Brain Angular Gyrus	brain
17	chr1:171809600-171809800	Enhancers	Brain Anterior Caudate	brain
18	chr1:171809600-171809800	Enhancers	Brain Germinal Matrix	brain
19	chr1:171809600-171809800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:171809600-171809800	Enhancers	Brain Substantia Nigra	brain
21	chr1:171809600-171809800	Enhancers	A549	lung
22	chr1:171809600-171809800	Enhancers	Hela-S3	cervix
23	chr1:171809600-171809800	Enhancers	HMEC	breast
24	chr1:171809600-171810000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:171809600-171810000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:171809600-171810600	ZNF genes & repeats	Liver	Liver
27	chr1:171809800-171810000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr1:171809800-171810000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:171809800-171810000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:171809800-171810000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:171809800-171810000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr1:171809800-171810000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:171809800-171810000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
34	chr1:171809800-171810000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr1:171809800-171810000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:171809800-171810000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:171809800-171810000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:171809800-171810000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:171809800-171810000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:171809800-171810000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:171809800-171810000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:171809800-171810000	Enhancers	Colon Smooth Muscle	Colon
43	chr1:171809800-171810000	Enhancers	Esophagus	oesophagus
44	chr1:171809800-171810000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:171809800-171810000	Active TSS	Fetal Brain Female	brain
46	chr1:171809800-171810000	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:171809800-171810000	Enhancers	Fetal Stomach	stomach
48	chr1:171809800-171810000	ZNF genes & repeats	Left Ventricle	heart
49	chr1:171809800-171810000	Enhancers	Psoas Muscle	Psoas
50	chr1:171809800-171810000	Enhancers	Small Intestine	intestine

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