Variant report

Variant	esv3356398
Chromosome Location	chr4:187643483-187646331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:373)
CpG islands
(count:673)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:187644863-187645182	HepG2	liver:	n/a	n/a
2	BACH1	chr4:187644476-187645910	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:187646310-187647275	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr4:187644359-187645387	K562	blood:	n/a	chr4:187645099-187645115
5	BHLHE40	chr4:187644682-187645241	HepG2	liver:	n/a	chr4:187645099-187645115
6	BHLHE40	chr4:187645852-187645855	K562	blood:	n/a	n/a
7	BRCA1	chr4:187645601-187645748	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr4:187645027-187645264	HepG2	liver:	n/a	n/a
9	BRCA1	chr4:187644900-187645100	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr4:187644336-187644523	HepG2	liver:	n/a	n/a
11	CCNT2	chr4:187645583-187646001	K562	blood:	n/a	n/a
12	CCNT2	chr4:187644412-187645297	K562	blood:	n/a	n/a
13	CEBPB	chr4:187644005-187644163	K562	blood:	n/a	n/a
14	CEBPB	chr4:187645011-187645472	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:187645740-187645900	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr4:187644377-187644515	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPD	chr4:187644802-187645264	HepG2	liver:	n/a	n/a
18	CHD1	chr4:187642313-187649288	IMR90	lung:	n/a	chr4:187645800-187645810
19	CHD1	chr4:187643687-187645215	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr4:187645426-187647983	H1-hESC	embryonic stem cell:	n/a	chr4:187645800-187645810
21	CHD2	chr4:187645670-187646074	Hela-S3	cervix:	n/a	chr4:187645800-187645810
22	CHD2	chr4:187644379-187644391	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr4:187644306-187645286	HepG2	liver:	n/a	n/a
24	CHD2	chr4:187644303-187645316	K562	blood:	n/a	n/a
25	CHD2	chr4:187644727-187646176	H1-hESC	embryonic stem cell:	n/a	chr4:187645800-187645810
26	CHD2	chr4:187644813-187645435	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr4:187644378-187644608	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr4:187645555-187646016	HepG2	liver:	n/a	chr4:187645800-187645810
29	CREB1	chr4:187644784-187645251	A549	lung:	n/a	n/a
30	CREB1	chr4:187644234-187645390	HepG2	liver:	n/a	n/a
31	CTBP2	chr4:187645452-187646064	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr4:187644335-187645198	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr4:187645040-187645190	SAEC	small airway:	n/a	n/a
34	CTCF	chr4:187644340-187644490	K562	blood:	n/a	n/a
35	CTCF	chr4:187646147-187648549	A549	lung:	n/a	chr4:187648201-187648209 chr4:187647166-187647174
36	CTCF	chr4:187645220-187645370	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr4:187644220-187644370	HCM	heart:	n/a	n/a
38	CTCF	chr4:187645440-187645590	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr4:187645200-187645350	HPF	lung:	n/a	n/a
40	CTCF	chr4:187644260-187644410	HepG2	liver:	n/a	n/a
41	CTCF	chr4:187644100-187644250	AG04450	lung:	n/a	n/a
42	CTCF	chr4:187644300-187644450	HMEC	breast:	n/a	n/a
43	CTCF	chr4:187644360-187644510	SAEC	small airway:	n/a	n/a
44	CTCF	chr4:187644360-187644510	HRE	kidney:	n/a	n/a
45	CTCF	chr4:187644260-187644410	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr4:187644320-187644470	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr4:187644260-187644410	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr4:187644220-187644370	HAc	cerebellar:	n/a	n/a
49	CTCF	chr4:187645540-187645690	BJ	skin:	n/a	n/a
50	CTCF	chr4:187645600-187645750	AG04449	skin:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187645059-187645109	HAEpiC	amniotic membrane:	n/a
2	chr4:187645448-187645498	GM12892	blood:	n/a
3	chr4:187645059-187645109	HAEpiC	amniotic membrane:	n/a
4	chr4:187645448-187645498	GM12892	blood:	n/a
5	chr4:187645144-187645194	NB4	blood:	n/a
6	chr4:187645280-187645330	RPTEC	kidney:	n/a
7	chr4:187645059-187645109	SK-N-SH	brain:	n/a
8	chr4:187645120-187645170	ovcar-3	ovarian:	n/a
9	chr4:187646055-187646105	AG04450	lung:	fetal
10	chr4:187646055-187646105	AoSMC	blood vessel:	n/a
11	chr4:187644620-187644670	IMR90	lung:	fetal
12	chr4:187646301-187646351	Caco-2	colon:	n/a
13	chr4:187644739-187644789	RPTEC	kidney:	n/a
14	chr4:187645448-187645498	AoSMC	blood vessel:	n/a
15	chr4:187645448-187645498	K562	blood:	n/a
16	chr4:187645448-187645498	HCF	heart:	n/a
17	chr4:187645144-187645194	SK-N-MC	brain:	n/a
18	chr4:187646055-187646105	HRPEpiC	eye:	n/a
19	chr4:187646055-187646105	A549	lung:	n/a
20	chr4:187645448-187645498	U87	brain:	n/a
21	chr4:187646055-187646105	U87	brain:	n/a
22	chr4:187645120-187645170	H1-hESC	embryonic stem cell:	embryo
23	chr4:187646301-187646351	AoSMC	blood vessel:	n/a
24	chr4:187645059-187645109	NHDF-neo	bronchial:	n/a
25	chr4:187645685-187645735	LNCaP	prostate:	n/a
26	chr4:187645120-187645170	NT2-D1	testis:	n/a
27	chr4:187645280-187645330	HCF	heart:	n/a
28	chr4:187645120-187645170	AG04449	skin:	fetal
29	chr4:187646301-187646351	NB4	blood:	n/a
30	chr4:187645059-187645109	BJ	skin:	n/a
31	chr4:187645059-187645109	AG10803	skin:	n/a
32	chr4:187646301-187646351	GM06990	blood:	n/a
33	chr4:187644620-187644670	RPTEC	kidney:	n/a
34	chr4:187645685-187645735	GM06990	blood:	n/a
35	chr4:187645120-187645170	MCF10A-Er-Src	breast:	n/a
36	chr4:187645448-187645498	BE2_C	brain:	n/a
37	chr4:187646055-187646105	HEEpiC	esophagus:	n/a
38	chr4:187646301-187646351	ovcar-3	ovarian:	n/a
39	chr4:187645059-187645109	BE2_C	brain:	n/a
40	chr4:187645118-187645168	A549	lung:	n/a
41	chr4:187644739-187644789	Caco-2	colon:	n/a
42	chr4:187644620-187644670	AG10803	skin:	n/a
43	chr4:187645120-187645170	AG10803	skin:	n/a
44	chr4:187645118-187645168	GM12878	blood:	n/a
45	chr4:187644739-187644789	HEEpiC	esophagus:	n/a
46	chr4:187646055-187646105	ProgFib	skin:	n/a
47	chr4:187645144-187645194	BE2_C	brain:	n/a
48	chr4:187644739-187644789	HCPEpiC	choroid plexus:	n/a
49	chr4:187645118-187645168	BJ	skin:	n/a
50	chr4:187645280-187645330	AoSMC	blood vessel:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187645076..187647185-chr4:187684123..187686273,3	K562	blood:
2	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
3	chr4:187645100..187646784-chr4:187678473..187680254,2	K562	blood:
4	chr4:187632290..187634581-chr4:187642578..187644901,2	K562	blood:
5	chr4:187645367..187647070-chr4:188073656..188075512,2	K562	blood:
6	chr4:187645076..187647185-chr4:187684194..187686273,2	K562	blood:
7	chr4:187638279..187640138-chr4:187642183..187644541,2	K562	blood:
8	chr14:24909091..24910881-chr4:187644537..187646251,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAT1	TF binding region
FAT1	CpG island
ENSG00000100445	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567008382	chr4:187643516-187643517	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs540784900	chr4:187643588-187643589	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs557547356	chr4:187643607-187643608	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78351681	chr4:187643662-187643663	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs56099296	chr4:187643686-187643687	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562893346	chr4:187643766-187643767	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs189007530	chr4:187643782-187643783	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147075759	chr4:187643832-187643833	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs193147877	chr4:187643968-187643969	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs527805169	chr4:187643998-187643999	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs545011306	chr4:187644049-187644050	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61515271	chr4:187644059-187644060	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374439580	chr4:187644097-187644098	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138562474	chr4:187644122-187644123	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533653980	chr4:187644134-187644135	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546435029	chr4:187644153-187644154	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550245395	chr4:187644162-187644163	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569628897	chr4:187644179-187644180	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535057026	chr4:187644199-187644200	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138367843	chr4:187644201-187644202	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs548969507	chr4:187644209-187644210	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs7674963	chr4:187644237-187644238	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs73876308	chr4:187644252-187644253	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534433037	chr4:187644275-187644276	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs552975112	chr4:187644304-187644305	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs557506614	chr4:187644385-187644386	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs577449245	chr4:187644428-187644429	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs118091914	chr4:187644444-187644445	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370039347	chr4:187644446-187644447	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556931112	chr4:187644467-187644468	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9685361	chr4:187644480-187644481	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs13125023	chr4:187644510-187644511	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs377127508	chr4:187644511-187644512	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191486940	chr4:187644642-187644643	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs327083	chr4:187644653-187644654	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184054644	chr4:187644668-187644669	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564662694	chr4:187644692-187644693	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144059681	chr4:187644719-187644720	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188787501	chr4:187644759-187644760	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113104082	chr4:187644775-187644776	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529604725	chr4:187644817-187644818	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2276925	chr4:187644944-187644945	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs327084	chr4:187644946-187644947	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565364453	chr4:187644947-187644948	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372128708	chr4:187644952-187644953	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376490766	chr4:187644955-187644956	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374323622	chr4:187644968-187644969	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113497726	chr4:187644989-187644990	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11308857	chr4:187645010-187645011	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs327085	chr4:187645064-187645065	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
XY gonadal dysgenesis	20685758	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
2	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:187635800-187643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
8	chr4:187641800-187644000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:187642000-187644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:187642000-187644200	Weak transcription	Lung	lung
11	chr4:187642000-187646800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:187642600-187643600	Enhancers	Colon Smooth Muscle	Colon
13	chr4:187642600-187643800	Transcr. at gene 5' and 3'	NHEK	skin
14	chr4:187642600-187646200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr4:187642600-187649200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:187642800-187643600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:187642800-187643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:187642800-187644400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:187642800-187649000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:187643000-187643600	Flanking Active TSS	HepG2	liver
21	chr4:187643000-187646200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr4:187643000-187646400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:187643000-187648600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:187643000-187648600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:187643200-187643600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:187643200-187643600	Enhancers	Fetal Lung	lung
27	chr4:187643200-187643600	Weak transcription	Right Atrium	heart
28	chr4:187643200-187643600	Enhancers	Stomach Smooth Muscle	stomach
29	chr4:187643200-187643800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:187643200-187644000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:187643200-187644000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:187643200-187644000	Flanking Active TSS	NH-A	brain
33	chr4:187643200-187648600	Active TSS	Right Ventricle	heart
34	chr4:187643200-187648600	Active TSS	HSMM	muscle
35	chr4:187643200-187648600	Active TSS	NHLF	lung
36	chr4:187643200-187648800	Active TSS	Osteobl	bone
37	chr4:187643200-187649000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:187643200-187649000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:187643200-187649000	Active TSS	HMEC	breast
40	chr4:187643200-187649200	Active TSS	Fetal Intestine Small	intestine
41	chr4:187643200-187649800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:187643400-187643600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr4:187643400-187643600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:187643400-187643600	Flanking Active TSS	Fetal Heart	heart
45	chr4:187643400-187643600	Active TSS	Fetal Kidney	kidney
46	chr4:187643400-187643600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:187643400-187643600	Flanking Active TSS	A549	lung
48	chr4:187643400-187643800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:187643400-187643800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr4:187643400-187643800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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