Variant report

Variant	esv3379485
Chromosome Location	chr1:57888389-57891237
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	chr1:57887740-57888660	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:57889947-57890545	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:57889135-57889439	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:57890226-57890640	HepG2	liver:	n/a	n/a
5	BHLHE40	chr1:57890506-57890512	K562	blood:	n/a	n/a
6	BRCA1	chr1:57888539-57888585	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr1:57890286-57890652	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr1:57890019-57890403	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr1:57890192-57890666	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr1:57888978-57889244	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr1:57887871-57889661	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr1:57889876-57890784	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr1:57888520-57888670	HPAF	blood vessel:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
14	CTCF	chr1:57888500-57888650	HRPEpiC	eye:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
15	CTCF	chr1:57890244-57890505	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
16	CTCF	chr1:57888480-57888630	AoAF	blood vessel:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
17	CTCF	chr1:57888460-57888610	HAc	cerebellar:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
18	CTCF	chr1:57890300-57890450	HPAF	blood vessel:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
19	CTCF	chr1:57890240-57890390	RPTEC	kidney:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
20	CTCF	chr1:57888480-57888630	AG04449	skin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
21	CTCF	chr1:57890261-57890465	K562	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
22	CTCF	chr1:57890180-57890330	BE2_C	brain:	n/a	n/a
23	CTCF	chr1:57890233-57890538	A549	lung:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
24	CTCF	chr1:57890101-57890492	K562	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
25	CTCF	chr1:57890320-57890470	SAEC	small airway:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
26	CTCF	chr1:57890238-57890463	HepG2	liver:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
27	CTCF	chr1:57888480-57888630	WERI-Rb-1	eye:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
28	CTCF	chr1:57890360-57890510	HCM	heart:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
29	CTCF	chr1:57890300-57890450	HCFaa	heart:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
30	CTCF	chr1:57890220-57890370	GM12872	blood:	n/a	n/a
31	CTCF	chr1:57890340-57890490	RPTEC	kidney:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
32	CTCF	chr1:57889595-57889602	Fibrobl	skin:	n/a	n/a
33	CTCF	chr1:57890237-57890499	Gliobla	brain:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
34	CTCF	chr1:57890300-57890450	BJ	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
35	CTCF	chr1:57890220-57890370	AG04450	lung:	n/a	n/a
36	CTCF	chr1:57890300-57890450	WERI-Rb-1	eye:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
37	CTCF	chr1:57888480-57888630	BJ	skin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
38	CTCF	chr1:57888500-57888650	AG10803	skin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
39	CTCF	chr1:57889612-57889646	Fibrobl	skin:	n/a	n/a
40	CTCF	chr1:57890260-57890410	HPF	lung:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
41	CTCF	chr1:57890340-57890490	HFF	foreskin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
42	CTCF	chr1:57888510-57888692	HepG2	liver:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
43	CTCF	chr1:57888460-57888610	HFF-Myc	foreskin:	n/a	chr1:57888588-57888597 chr1:57888585-57888603 chr1:57888587-57888608
44	CTCF	chr1:57890227-57890517	NHEK	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
45	CTCF	chr1:57890128-57890643	H1-hESC	embryonic stem cell:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
46	CTCF	chr1:57890400-57890550	GM12870	blood:	n/a	n/a
47	CTCF	chr1:57890204-57890570	H1-hESC	embryonic stem cell:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
48	CTCF	chr1:57890174-57890511	HepG2	liver:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
49	CTCF	chr1:57890240-57890390	HCM	heart:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
50	CTCF	chr1:57890280-57890430	GM12868	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:57889475-57889525	HNPCEpiC	eye:	n/a
2	chr1:57889475-57889525	HNPCEpiC	eye:	n/a
3	chr1:57889035-57889085	SKMC	muscle:	n/a
4	chr1:57890317-57890367	ECC-1	luminal epithelium:	n/a
5	chr1:57890636-57890686	AG04449	skin:	fetal
6	chr1:57888343-57888393	AG04450	lung:	fetal
7	chr1:57890636-57890686	HNPCEpiC	eye:	n/a
8	chr1:57889604-57889654	HIPEpiC	eye:	n/a
9	chr1:57888707-57888757	NHBE	bronchial:	n/a
10	chr1:57889604-57889654	AG09319	gingival:	n/a
11	chr1:57890317-57890367	NH-A	brain:	n/a
12	chr1:57888796-57888846	HCPEpiC	choroid plexus:	n/a
13	chr1:57890610-57890660	HCF	heart:	n/a
14	chr1:57890488-57890538	SK-N-MC	brain:	n/a
15	chr1:57888581-57888631	AoSMC	blood vessel:	n/a
16	chr1:57890488-57890538	HNPCEpiC	eye:	n/a
17	chr1:57890317-57890367	NB4	blood:	n/a
18	chr1:57889604-57889654	GM12892	blood:	n/a
19	chr1:57889475-57889525	GM12892	blood:	n/a
20	chr1:57890488-57890538	A549	lung:	n/a
21	chr1:57888343-57888393	GM12878	blood:	n/a
22	chr1:57888581-57888631	MCF-7	breast:	n/a
23	chr1:57889475-57889525	AG04449	skin:	fetal
24	chr1:57888796-57888846	HIPEpiC	eye:	n/a
25	chr1:57890488-57890538	NHDF-neo	bronchial:	n/a
26	chr1:57890610-57890660	H1-hESC	embryonic stem cell:	embryo
27	chr1:57888343-57888393	HCPEpiC	choroid plexus:	n/a
28	chr1:57889417-57889467	IMR90	lung:	fetal
29	chr1:57888707-57888757	SAEC	small airway:	n/a
30	chr1:57888343-57888393	AoSMC	blood vessel:	n/a
31	chr1:57888480-57888530	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:57889604-57889654	NHDF-neo	bronchial:	n/a
33	chr1:57889417-57889467	AG04449	skin:	fetal
34	chr1:57888480-57888530	NH-A	brain:	n/a
35	chr1:57888480-57888530	HCM	heart:	n/a
36	chr1:57890317-57890367	PrEC	prostate:	n/a
37	chr1:57890317-57890367	ovcar-3	ovarian:	n/a
38	chr1:57888343-57888393	HRCEpiC	kidney:	n/a
39	chr1:57890317-57890367	RPTEC	kidney:	n/a
40	chr1:57890636-57890686	GM06990	blood:	n/a
41	chr1:57888796-57888846	MCF10A-Er-Src	breast:	n/a
42	chr1:57889417-57889467	H1-hESC	embryonic stem cell:	embryo
43	chr1:57888796-57888846	RPTEC	kidney:	n/a
44	chr1:57888581-57888631	SAEC	small airway:	n/a
45	chr1:57888480-57888530	K562	blood:	n/a
46	chr1:57889417-57889467	SAEC	small airway:	n/a
47	chr1:57890610-57890660	NH-A	brain:	n/a
48	chr1:57889604-57889654	AG10803	skin:	n/a
49	chr1:57889604-57889654	U87	brain:	n/a
50	chr1:57888707-57888757	SKMC	muscle:	n/a

Variant related genes	Relation type
DAB1	TF binding region
DAB1	CpG island

Extended variants
information (count: 73 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71511461	chr1:57888390-57888391	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531903428	chr1:57888403-57888404	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35900444	chr1:57888448-57888449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548811148	chr1:57888588-57888589	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562217787	chr1:57888611-57888612	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527398717	chr1:57888684-57888685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560310927	chr1:57888726-57888727	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570430724	chr1:57888823-57888824	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76255227	chr1:57888828-57888829	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35413219	chr1:57888842-57888843	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397746489	chr1:57888846-57888847	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191546802	chr1:57888921-57888922	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112367017	chr1:57888934-57888935	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368160721	chr1:57888992-57888993	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569940254	chr1:57889041-57889042	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535316283	chr1:57889069-57889070	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372416550	chr1:57889072-57889073	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7519071	chr1:57889227-57889228	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565506402	chr1:57889248-57889249	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534496311	chr1:57889261-57889262	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553878181	chr1:57889278-57889279	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369190541	chr1:57889358-57889359	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372947637	chr1:57889376-57889377	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7552354	chr1:57889444-57889445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556244083	chr1:57889466-57889467	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149767434	chr1:57889496-57889497	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542505906	chr1:57889604-57889605	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562352133	chr1:57889631-57889632	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532211508	chr1:57889677-57889678	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7552727	chr1:57889822-57889823	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs181686929	chr1:57889840-57889841	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs144659354	chr1:57889896-57889897	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs12735187	chr1:57889901-57889902	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs549750737	chr1:57889962-57889963	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs569519666	chr1:57889984-57889985	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs548471057	chr1:57890006-57890007	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74351145	chr1:57890060-57890061	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs190199207	chr1:57890091-57890092	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548903260	chr1:57890106-57890107	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565619137	chr1:57890107-57890108	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs182427133	chr1:57890155-57890156	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs557659907	chr1:57890214-57890215	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12739184	chr1:57890250-57890251	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185812260	chr1:57890286-57890287	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs144251817	chr1:57890321-57890322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs4912250	chr1:57890339-57890340	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189929205	chr1:57890460-57890461	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs4912252	chr1:57890482-57890483	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs180980444	chr1:57890505-57890506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs572766402	chr1:57890513-57890514	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
2	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57887200-57888400	Enhancers	Fetal Heart	heart
5	chr1:57887200-57888600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr1:57887200-57888800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:57887200-57890200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:57887400-57888400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:57887400-57888400	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:57887400-57888400	Active TSS	Brain Angular Gyrus	brain
15	chr1:57887400-57889200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
18	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:57887400-57890600	Active TSS	Right Atrium	heart
21	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:57887600-57889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:57887600-57889600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:57887800-57888400	Flanking Active TSS	Fetal Brain Male	brain
31	chr1:57887800-57888400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr1:57887800-57888600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr1:57887800-57888600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:57887800-57888600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr1:57887800-57888800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
37	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr1:57887800-57888800	Flanking Bivalent TSS/Enh	NHEK	skin
40	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:57887800-57890000	Bivalent Enhancer	Liver	Liver
43	chr1:57887800-57890000	Bivalent Enhancer	Placenta	Placenta
44	chr1:57887800-57890200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:57887800-57890200	Bivalent/Poised TSS	Psoas Muscle	Psoas
46	chr1:57887800-57890400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:57887800-57890600	Bivalent/Poised TSS	NH-A	brain
48	chr1:57887800-57890800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:57887800-57890800	Bivalent/Poised TSS	NHLF	lung
50	chr1:57888000-57888400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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