Variant report

Variant	esv3343011
Chromosome Location	chr4:125632527-125635375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:912)
CpG islands
(count:427)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:125633992-125634897	K562	blood:	n/a	n/a
2	ARID3A	chr4:125634136-125634789	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:125633465-125633487	K562	blood:	n/a	n/a
4	ATF3	chr4:125634499-125634733	K562	blood:	n/a	n/a
5	BACH1	chr4:125633118-125633443	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr4:125633925-125634536	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr4:125633065-125634912	K562	blood:	n/a	chr4:125633856-125633872 chr4:125633857-125633873 chr4:125633859-125633875 chr4:125634073-125634089
8	BHLHE40	chr4:125633856-125634624	GM12878	blood:	n/a	chr4:125633856-125633872 chr4:125633857-125633873 chr4:125633859-125633875 chr4:125634073-125634089
9	BHLHE40	chr4:125632638-125632849	K562	blood:	n/a	n/a
10	BHLHE40	chr4:125633509-125634811	HepG2	liver:	n/a	chr4:125633856-125633872 chr4:125633857-125633873 chr4:125633859-125633875 chr4:125634073-125634089
11	BHLHE40	chr4:125633922-125634343	A549	lung:	n/a	chr4:125634073-125634089
12	BRCA1	chr4:125634064-125634814	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr4:125634098-125634660	HepG2	liver:	n/a	n/a
14	CBX3	chr4:125633914-125634901	K562	blood:	n/a	n/a
15	CBX3	chr4:125634476-125634820	K562	blood:	n/a	n/a
16	CBX3	chr4:125633175-125633546	K562	blood:	n/a	n/a
17	CBX3	chr4:125633574-125633903	K562	blood:	n/a	n/a
18	CBX3	chr4:125632562-125632945	K562	blood:	n/a	n/a
19	CBX3	chr4:125633937-125634357	K562	blood:	n/a	n/a
20	CCNT2	chr4:125633096-125634836	K562	blood:	n/a	chr4:125633836-125633845 chr4:125634011-125634020 chr4:125633354-125633363
21	CEBPB	chr4:125634087-125634738	Hela-S3	cervix:	n/a	chr4:125634490-125634503
22	CEBPB	chr4:125632518-125632846	K562	blood:	n/a	n/a
23	CEBPB	chr4:125634177-125634395	HepG2	liver:	n/a	n/a
24	CEBPD	chr4:125633584-125633835	HepG2	liver:	n/a	n/a
25	CEBPD	chr4:125633951-125634480	K562	blood:	n/a	n/a
26	CEBPD	chr4:125633895-125634420	HepG2	liver:	n/a	n/a
27	CHD1	chr4:125632639-125633192	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr4:125633684-125633686	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr4:125634574-125634718	GM12878	blood:	n/a	n/a
30	CHD2	chr4:125633201-125634784	K562	blood:	n/a	chr4:125633315-125633325 chr4:125633829-125633839
31	CHD2	chr4:125633170-125634725	H1-hESC	embryonic stem cell:	n/a	chr4:125633315-125633325 chr4:125633829-125633839
32	CHD2	chr4:125633670-125634344	GM12878	blood:	n/a	chr4:125633829-125633839
33	CHD2	chr4:125633301-125634768	HepG2	liver:	n/a	chr4:125633315-125633325 chr4:125633829-125633839
34	CHD2	chr4:125632667-125634723	Hela-S3	cervix:	n/a	chr4:125633315-125633325 chr4:125633829-125633839
35	CREB1	chr4:125633665-125634383	A549	lung:	n/a	n/a
36	CREB1	chr4:125633150-125633575	A549	lung:	n/a	n/a
37	CREB1	chr4:125634047-125634297	A549	lung:	n/a	n/a
38	CREB1	chr4:125633120-125634858	HepG2	liver:	n/a	n/a
39	CREB1	chr4:125633807-125634744	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr4:125633045-125634772	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr4:125632700-125632850	GM06990	blood:	n/a	n/a
42	CTCF	chr4:125634560-125634710	AG09309	skin:	n/a	chr4:125634640-125634649
43	CTCF	chr4:125634520-125634670	GM12864	blood:	n/a	chr4:125634640-125634649
44	CTCF	chr4:125634580-125634730	HMEC	breast:	n/a	chr4:125634640-125634649
45	CTCF	chr4:125634540-125634690	WERI-Rb-1	eye:	n/a	chr4:125634640-125634649
46	CTCF	chr4:125634260-125634410	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr4:125634540-125634690	HMF	breast:	n/a	chr4:125634640-125634649
48	CTCF	chr4:125634560-125634710	GM12873	blood:	n/a	chr4:125634640-125634649
49	CTCF	chr4:125633220-125633370	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr4:125634498-125634759	K562	blood:	n/a	chr4:125634640-125634649

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:125632747-125632797	Jurkat	blood:	n/a
2	chr4:125633704-125633754	CMK	blood:	n/a
3	chr4:125632538-125632588	HUVEC	blood vessel:	n/a
4	chr4:125632538-125632588	U87	brain:	n/a
5	chr4:125634632-125634682	SK-N-SH_RA	brain:	n/a
6	chr4:125633640-125633690	GM12892	blood:	n/a
7	chr4:125633640-125633690	AoSMC	blood vessel:	n/a
8	chr4:125632747-125632797	AG09319	gingival:	n/a
9	chr4:125633704-125633754	HepG2	liver:	n/a
10	chr4:125634632-125634682	HCT-116	colon:	n/a
11	chr4:125632747-125632797	SK-N-MC	brain:	n/a
12	chr4:125633631-125633681	IMR90	lung:	fetal
13	chr4:125634632-125634682	ECC-1	luminal epithelium:	n/a
14	chr4:125633640-125633690	AG10803	skin:	n/a
15	chr4:125634258-125634308	PFSK-1	brain:	n/a
16	chr4:125634632-125634682	NB4	blood:	n/a
17	chr4:125633704-125633754	ovcar-3	ovarian:	n/a
18	chr4:125633631-125633681	HEK293	kidney:	embryo
19	chr4:125632538-125632588	HNPCEpiC	eye:	n/a
20	chr4:125634258-125634308	ovcar-3	ovarian:	n/a
21	chr4:125632747-125632797	SK-N-SH_RA	brain:	n/a
22	chr4:125632538-125632588	SK-N-MC	brain:	n/a
23	chr4:125633631-125633681	GM12891	blood:	n/a
24	chr4:125633640-125633690	ovcar-3	ovarian:	n/a
25	chr4:125634258-125634308	SK-N-MC	brain:	n/a
26	chr4:125632538-125632588	RPTEC	kidney:	n/a
27	chr4:125633631-125633681	HIPEpiC	eye:	n/a
28	chr4:125634258-125634308	ECC-1	luminal epithelium:	n/a
29	chr4:125632747-125632797	HNPCEpiC	eye:	n/a
30	chr4:125634632-125634682	SK-N-SH	brain:	n/a
31	chr4:125632538-125632588	Caco-2	colon:	n/a
32	chr4:125634632-125634682	AG09309	skin:	n/a
33	chr4:125634632-125634682	GM12891	blood:	n/a
34	chr4:125633704-125633754	T-47D	breast:	n/a
35	chr4:125633631-125633681	HNPCEpiC	eye:	n/a
36	chr4:125634632-125634682	NHBE	bronchial:	n/a
37	chr4:125633640-125633690	H1-hESC	embryonic stem cell:	embryo
38	chr4:125633704-125633754	NHBE	bronchial:	n/a
39	chr4:125634632-125634682	PFSK-1	brain:	n/a
40	chr4:125632747-125632797	GM06990	blood:	n/a
41	chr4:125633631-125633681	ProgFib	skin:	n/a
42	chr4:125633631-125633681	NH-A	brain:	n/a
43	chr4:125634258-125634308	T-47D	breast:	n/a
44	chr4:125632747-125632797	SK-N-SH	brain:	n/a
45	chr4:125634632-125634682	NH-A	brain:	n/a
46	chr4:125633631-125633681	HCM	heart:	n/a
47	chr4:125633640-125633690	HRCEpiC	kidney:	n/a
48	chr4:125634258-125634308	U87	brain:	n/a
49	chr4:125632747-125632797	HepG2	liver:	n/a
50	chr4:125632538-125632588	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:125633325..125633827-chr5:64920331..64921029,2	Hela-S3	cervix:
2	chr4:125601250..125602938-chr4:125631120..125633142,2	K562	blood:
3	chr16:14050941..14051878-chr4:125632915..125633814,2	Hela-S3	cervix:
4	chr17:39844836..39845708-chr4:125633255..125633833,2	Hela-S3	cervix:
5	chr4:125607408..125609812-chr4:125634396..125636485,2	K562	blood:
6	chr4:125631616..125633726-chr4:125883727..125886839,4	MCF-7	breast:
7	chr4:125634681..125637272-chr4:125648619..125650581,2	MCF-7	breast:
8	chr4:125600002..125602938-chr4:125630037..125632620,2	K562	blood:
9	chr2:37899209..37899972-chr4:125633775..125634624,2	HCT-116	colon:
10	chr12:54069744..54070245-chr4:125633304..125633812,2	HCT-116	colon:
11	chr19:41932741..41933241-chr4:125632924..125633492,2	HCT-116	colon:
12	chr4:125587788..125590476-chr4:125631233..125632777,2	MCF-7	breast:
13	chr4:125634057..125636507-chr4:125646321..125649119,3	MCF-7	breast:
14	chr4:125252420..125254567-chr4:125631458..125633343,2	MCF-7	breast:
15	chr4:125630101..125632893-chr4:125662563..125664427,2	K562	blood:
16	chr4:125355738..125360405-chr4:125631320..125634850,4	MCF-7	breast:
17	chr17:62222980..62223583-chr4:125633275..125633982,2	HCT-116	colon:

No data

Variant related genes	Relation type
ANKRD50	TF binding region
ANKRD50	CpG island
ENSG00000113597	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000248506	chromatin interactions
ENSG00000135390	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000253251	chromatin interactions
ENSG00000163171	chromatin interactions
ENSG00000113595	chromatin interactions
ENSG00000199753	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193060776	chr4:125632532-125632533	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183848581	chr4:125632572-125632573	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2242378	chr4:125632581-125632582	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535127723	chr4:125632587-125632588	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77981633	chr4:125632671-125632672	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188342130	chr4:125632713-125632714	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544692473	chr4:125632716-125632717	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192937549	chr4:125632726-125632727	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183989440	chr4:125632766-125632767	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138984918	chr4:125632815-125632816	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188378902	chr4:125632840-125632841	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201656664	chr4:125632915-125632916	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543565584	chr4:125632941-125632942	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142130163	chr4:125632971-125632972	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191280766	chr4:125633045-125633046	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183719699	chr4:125633055-125633056	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530754779	chr4:125633085-125633086	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145725342	chr4:125633098-125633099	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76477118	chr4:125633104-125633105	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551950137	chr4:125633122-125633123	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570084718	chr4:125633123-125633124	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537256382	chr4:125633141-125633142	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549519779	chr4:125633143-125633144	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372573436	chr4:125633193-125633194	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535362875	chr4:125633223-125633224	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553243763	chr4:125633236-125633237	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376379007	chr4:125633296-125633297	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs571755938	chr4:125633307-125633308	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs539003049	chr4:125633427-125633428	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs557443061	chr4:125633431-125633432	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs6857488	chr4:125633501-125633502	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs543276478	chr4:125633508-125633509	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs561945095	chr4:125633577-125633578	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs573736419	chr4:125633597-125633598	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs541375566	chr4:125633723-125633724	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs563256115	chr4:125633795-125633796	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs574816496	chr4:125633855-125633856	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs559680496	chr4:125633857-125633858	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs533367054	chr4:125633879-125633880	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs548857222	chr4:125633895-125633896	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs563646694	chr4:125633978-125633979	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs531062457	chr4:125634031-125634032	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs373102316	chr4:125634032-125634033	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377404688	chr4:125634043-125634044	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370806902	chr4:125634048-125634049	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs532681814	chr4:125634096-125634097	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549194072	chr4:125634123-125634124	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs567891447	chr4:125634190-125634191	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534886230	chr4:125634201-125634202	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546061927	chr4:125634243-125634244	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125622400-125632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:125625600-125633000	Weak transcription	Small Intestine	intestine
3	chr4:125629200-125632800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:125629600-125632600	Enhancers	HepG2	liver
5	chr4:125629600-125633400	Active TSS	Right Atrium	heart
6	chr4:125630000-125634800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:125630200-125632600	Enhancers	Liver	Liver
8	chr4:125630400-125632600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:125630600-125635000	Active TSS	A549	lung
10	chr4:125630600-125635200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:125630800-125633400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:125631000-125632600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr4:125631000-125632600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr4:125631000-125633000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:125631000-125633200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:125631000-125633200	Flanking Active TSS	Dnd41	blood
17	chr4:125631000-125634200	Active TSS	Placenta	Placenta
18	chr4:125631200-125633200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:125631200-125633200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr4:125631200-125634600	Active TSS	Brain Cingulate Gyrus	brain
21	chr4:125631400-125632600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:125631400-125632600	Enhancers	Primary B cells from cord blood	blood
23	chr4:125631400-125634600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr4:125631600-125632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:125631600-125632600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:125631600-125632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:125631600-125632600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr4:125631600-125632600	Active TSS	Duodenum Mucosa	Duodenum
29	chr4:125631600-125632600	Weak transcription	Pancreas	Pancrea
30	chr4:125631600-125632600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:125631600-125632600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr4:125631600-125632800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:125631600-125633000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:125631600-125634200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:125631600-125634200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:125631600-125634400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr4:125631600-125634400	Active TSS	Fetal Brain Female	brain
38	chr4:125631600-125634600	Active TSS	Fetal Muscle Trunk	muscle
39	chr4:125631600-125634600	Active TSS	Fetal Muscle Leg	muscle
40	chr4:125631600-125634600	Active TSS	Gastric	stomach
41	chr4:125631600-125634600	Active TSS	Lung	lung
42	chr4:125631600-125634600	Active TSS	NHLF	lung
43	chr4:125631600-125634800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:125631600-125634800	Active TSS	Aorta	Aorta
45	chr4:125631600-125634800	Active TSS	Ovary	ovary
46	chr4:125631600-125634800	Active TSS	Right Ventricle	heart
47	chr4:125631800-125632600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr4:125631800-125633000	Weak transcription	Spleen	Spleen
49	chr4:125631800-125634200	Active TSS	NHDF-Ad	bronchial
50	chr4:125631800-125634400	Active TSS	Fetal Intestine Small	intestine

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