Variant report

Variant	esv3402388
Chromosome Location	chr1:57109989-57112537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:179)
CpG islands
(count:916)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:179 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:57109126-57110185	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:57110697-57110704	HepG2	liver:	n/a	n/a
3	BRCA1	chr1:57110390-57110546	HepG2	liver:	n/a	n/a
4	BRCA1	chr1:57109886-57110415	Hela-S3	cervix:	n/a	n/a
5	CEBPD	chr1:57110799-57111044	HepG2	liver:	n/a	n/a
6	CEBPD	chr1:57110675-57111231	HepG2	liver:	n/a	n/a
7	CHD1	chr1:57111728-57111940	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr1:57110314-57111134	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr1:57110424-57111347	HepG2	liver:	n/a	n/a
10	CREB1	chr1:57110620-57111223	A549	lung:	n/a	n/a
11	CTBP2	chr1:57110553-57111521	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:57110848-57110937	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr1:57110963-57110964	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:57110740-57110890	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr1:57110740-57110890	HepG2	liver:	n/a	n/a
16	CTCF	chr1:57110760-57110910	AG04449	skin:	n/a	n/a
17	CTCF	chr1:57110837-57111020	HepG2	liver:	n/a	n/a
18	CTCF	chr1:57110840-57110990	SK-N-SH_RA	brain:	n/a	n/a
19	E2F1	chr1:57110698-57111742	Hela-S3	cervix:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
20	E2F4	chr1:57111781-57112084	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F6	chr1:57110870-57111247	A549	lung:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
22	E2F6	chr1:57110344-57111389	H1-hESC	embryonic stem cell:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
23	E2F6	chr1:57110873-57111154	K562	blood:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
24	E2F6	chr1:57110703-57111394	H1-hESC	embryonic stem cell:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
25	E2F6	chr1:57110771-57111338	A549	lung:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
26	E2F6	chr1:57110828-57111012	K562	blood:	n/a	chr1:57111000-57111010
27	EGR1	chr1:57110813-57111114	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr1:57110873-57111118	SK-N-SH_RA	brain:	n/a	chr1:57111001-57111010 chr1:57111004-57111013 chr1:57111007-57111016 chr1:57111012-57111028
29	FOXA2	chr1:57109189-57110009	HepG2	liver:	n/a	n/a
30	GATA2	chr1:57109506-57110121	HUVEC	blood vessel:	n/a	n/a
31	GTF2F1	chr1:57111414-57112145	Hela-S3	cervix:	n/a	n/a
32	GTF2F1	chr1:57109959-57110542	Hela-S3	cervix:	n/a	n/a
33	HA-E2F1	chr1:57110548-57111702	Hela-S3	cervix:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
34	HEY1	chr1:57110671-57111206	HepG2	liver:	n/a	chr1:57111000-57111015 chr1:57110776-57110791 chr1:57110752-57110767
35	HEY1	chr1:57110531-57111547	HepG2	liver:	n/a	chr1:57111328-57111343 chr1:57110752-57110767 chr1:57111000-57111015 chr1:57110776-57110791
36	HMGN3	chr1:57110691-57110779	K562	blood:	n/a	n/a
37	HMGN3	chr1:57111033-57111214	K562	blood:	n/a	n/a
38	JUND	chr1:57110756-57110989	H1-hESC	embryonic stem cell:	n/a	n/a
39	KAP1	chr1:57111524-57112038	U2OS	brain:	n/a	n/a
40	MAFK	chr1:57112277-57112575	IMR90	lung:	n/a	n/a
41	MAFK	chr1:57111468-57111623	HepG2	liver:	n/a	n/a
42	MAFK	chr1:57112340-57112624	HepG2	liver:	n/a	n/a
43	MAX	chr1:57110825-57111296	MCF-7	breast:	n/a	n/a
44	MAX	chr1:57110729-57111452	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr1:57110715-57111234	HepG2	liver:	n/a	n/a
46	MAX	chr1:57110595-57111802	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr1:57110828-57111260	SK-N-SH	brain:	n/a	n/a
48	MAX	chr1:57110365-57111746	HepG2	liver:	n/a	n/a
49	MAX	chr1:57110497-57111689	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr1:57110660-57111286	A549	lung:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:57111099-57111149	ECC-1	luminal epithelium:	n/a
2	chr1:57111099-57111149	ECC-1	luminal epithelium:	n/a
3	chr1:57110722-57110772	PFSK-1	brain:	n/a
4	chr1:57111117-57111167	PrEC	prostate:	n/a
5	chr1:57111199-57111249	HCF	heart:	n/a
6	chr1:57111199-57111249	MCF10A-Er-Src	breast:	n/a
7	chr1:57111099-57111149	HCT-116	colon:	n/a
8	chr1:57111387-57111437	IMR90	lung:	fetal
9	chr1:57111387-57111437	HepG2	liver:	n/a
10	chr1:57110870-57110920	ECC-1	luminal epithelium:	n/a
11	chr1:57111499-57111549	ECC-1	luminal epithelium:	n/a
12	chr1:57110403-57110453	ECC-1	luminal epithelium:	n/a
13	chr1:57110867-57110917	Jurkat	blood:	n/a
14	chr1:57110722-57110772	SK-N-SH	brain:	n/a
15	chr1:57111122-57111172	AG09309	skin:	n/a
16	chr1:57111387-57111437	HAEpiC	amniotic membrane:	n/a
17	chr1:57110878-57110928	Caco-2	colon:	n/a
18	chr1:57111099-57111149	HRE	kidney:	n/a
19	chr1:57111099-57111149	ovcar-3	ovarian:	n/a
20	chr1:57110878-57110928	HCF	heart:	n/a
21	chr1:57110724-57110774	SK-N-SH	brain:	n/a
22	chr1:57111099-57111149	HEEpiC	esophagus:	n/a
23	chr1:57111199-57111249	NT2-D1	testis:	n/a
24	chr1:57111199-57111249	H1-hESC	embryonic stem cell:	embryo
25	chr1:57111108-57111158	H1-hESC	embryonic stem cell:	embryo
26	chr1:57111108-57111158	LNCaP	prostate:	n/a
27	chr1:57110403-57110453	AG04449	skin:	fetal
28	chr1:57111387-57111437	AoSMC	blood vessel:	n/a
29	chr1:57110686-57110736	Hela-S3	cervix:	n/a
30	chr1:57111099-57111149	RPTEC	kidney:	n/a
31	chr1:57111387-57111437	HCT-116	colon:	n/a
32	chr1:57111387-57111437	SK-N-MC	brain:	n/a
33	chr1:57110724-57110774	LNCaP	prostate:	n/a
34	chr1:57110878-57110928	T-47D	breast:	n/a
35	chr1:57111387-57111437	H1-hESC	embryonic stem cell:	embryo
36	chr1:57110724-57110774	NH-A	brain:	n/a
37	chr1:57111199-57111249	T-47D	breast:	n/a
38	chr1:57110686-57110736	Caco-2	colon:	n/a
39	chr1:57110724-57110774	AG04449	skin:	fetal
40	chr1:57110686-57110736	ovcar-3	ovarian:	n/a
41	chr1:57110722-57110772	AG09309	skin:	n/a
42	chr1:57110870-57110920	AG04450	lung:	fetal
43	chr1:57111122-57111172	HCM	heart:	n/a
44	chr1:57111108-57111158	SK-N-MC	brain:	n/a
45	chr1:57110686-57110736	SK-N-SH_RA	brain:	n/a
46	chr1:57111117-57111167	SK-N-MC	brain:	n/a
47	chr1:57111099-57111149	NHBE	bronchial:	n/a
48	chr1:57110722-57110772	NHBE	bronchial:	n/a
49	chr1:57111099-57111149	HRPEpiC	eye:	n/a
50	chr1:57111108-57111158	PFSK-1	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:57110974..57111787-chr5:43018020..43018793,2	Hela-S3	cervix:
2	chr1:57110866..57111695-chr5:180670087..180670753,2	Hela-S3	cervix:
3	chr1:57110843..57111363-chr20:25371274..25371823,2	HCT-116	colon:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf168-2	chr1:57110891-57110945	NONHSAT003452
2	lnc-C1orf168-2	chr1:57109889-57110681	XLOC_000846
3	lnc-C1orf168-2	chr1:57110891-57110973	NONHSAT003457
4	lnc-C1orf168-2	chr1:57110891-57110930	XLOC_000846

No data

Variant related genes	Relation type
PRKAA2	TF binding region
PPAP2B	TF binding region
PRKAA2	CpG island
PPAP2B	CpG island
ENSG00000204628	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000100997	chromatin interactions
ENSG00000264549	chromatin interactions
ETV6	miRNA target sites

Extended variants
information (count: 81 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539381692	chr1:57110024-57110025	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs111656690	chr1:57110064-57110065	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs59223968	chr1:57110104-57110105	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186409793	chr1:57110118-57110119	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs78965322	chr1:57110125-57110126	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs74073777	chr1:57110156-57110157	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541377172	chr1:57110173-57110174	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs189591127	chr1:57110213-57110214	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs199866172	chr1:57110230-57110231	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs552516317	chr1:57110266-57110267	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs577360367	chr1:57110340-57110341	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs562857353	chr1:57110356-57110357	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs531869459	chr1:57110382-57110383	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs548255638	chr1:57110389-57110390	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs149441623	chr1:57110391-57110392	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs534119052	chr1:57110501-57110502	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs371610744	chr1:57110505-57110506	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs547697722	chr1:57110590-57110591	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs570766305	chr1:57110593-57110594	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs539075718	chr1:57110632-57110633	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs556155107	chr1:57110657-57110658	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs372797671	chr1:57110682-57110683	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs535581985	chr1:57110683-57110684	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566982800	chr1:57110699-57110700	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs555492017	chr1:57110760-57110761	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs572278346	chr1:57110770-57110771	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs182279884	chr1:57110786-57110787	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs552371954	chr1:57110805-57110806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577834754	chr1:57110882-57110883	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs543337374	chr1:57110960-57110961	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
31	rs545526063	chr1:57110998-57110999	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs374319553	chr1:57111029-57111030	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs562930319	chr1:57111034-57111035	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs368197146	chr1:57111037-57111038	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs541961658	chr1:57111047-57111048	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs200643979	chr1:57111084-57111085	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs61772962	chr1:57111169-57111170	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547547929	chr1:57111184-57111185	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs376649966	chr1:57111189-57111190	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs570937923	chr1:57111207-57111208	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs533706333	chr1:57111257-57111258	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs550202240	chr1:57111306-57111307	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs560040775	chr1:57111314-57111315	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs569673794	chr1:57111322-57111323	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs530137147	chr1:57111339-57111340	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs144657028	chr1:57111365-57111366	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs565752483	chr1:57111386-57111387	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs74494669	chr1:57111461-57111462	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs558019009	chr1:57111487-57111488	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs577742692	chr1:57111660-57111661	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57105600-57110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:57105600-57110200	Weak transcription	HSMMtube	muscle
3	chr1:57109200-57110000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57109200-57110000	Enhancers	Fetal Intestine Small	intestine
5	chr1:57109400-57110000	Enhancers	Liver	Liver
6	chr1:57109400-57110000	Enhancers	NHDF-Ad	bronchial
7	chr1:57109600-57110200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:57109800-57110000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr1:57109800-57110000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:57109800-57110000	Bivalent Enhancer	Primary T cells from cord blood	blood
11	chr1:57109800-57110000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:57109800-57110000	Enhancers	Colon Smooth Muscle	Colon
13	chr1:57109800-57110000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:57109800-57110000	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr1:57109800-57110000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:57109800-57110000	Flanking Active TSS	Fetal Lung	lung
17	chr1:57109800-57110000	Enhancers	Ovary	ovary
18	chr1:57109800-57110000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:57109800-57110000	Flanking Active TSS	Hela-S3	cervix
20	chr1:57109800-57110000	Enhancers	NHLF	lung
21	chr1:57109800-57110200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr1:57109800-57110200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:57109800-57110200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:57109800-57110200	Flanking Active TSS	Fetal Brain Male	brain
25	chr1:57109800-57110200	Flanking Active TSS	Fetal Heart	heart
26	chr1:57109800-57110200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
27	chr1:57109800-57110200	Active TSS	Fetal Muscle Trunk	muscle
28	chr1:57109800-57110200	Flanking Active TSS	Fetal Stomach	stomach
29	chr1:57109800-57110200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:57109800-57110200	Flanking Active TSS	A549	lung
31	chr1:57109800-57110200	Flanking Active TSS	HepG2	liver
32	chr1:57109800-57110400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:57109800-57110400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr1:57109800-57110600	Flanking Active TSS	HUVEC	blood vessel
35	chr1:57109800-57110800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:57109800-57111000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:57109800-57111200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:57109800-57111400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
39	chr1:57109800-57111600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:57109800-57111600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:57109800-57111800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr1:57109800-57112000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:57109800-57112000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:57109800-57112000	Active TSS	Psoas Muscle	Psoas
45	chr1:57109800-57112200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:57109800-57112200	Active TSS	Brain Angular Gyrus	brain
47	chr1:57109800-57112400	Active TSS	Rectal Smooth Muscle	rectum
48	chr1:57109800-57113200	Active TSS	Right Atrium	heart
49	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:57110000-57110200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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