Variant report

Variant	esv3359788
Chromosome Location	chr4:85885953-85888501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:519)
CpG islands
(count:488)
Chromatin interactive
region (count:8)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:85886734-85886855	HepG2	liver:	n/a	n/a
2	ATF1	chr4:85887757-85887998	K562	blood:	n/a	n/a
3	BACH1	chr4:85886751-85887443	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:85888178-85888727	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr4:85887728-85887924	K562	blood:	n/a	n/a
6	BRCA1	chr4:85888159-85888550	HepG2	liver:	n/a	n/a
7	BRCA1	chr4:85887670-85887763	HepG2	liver:	n/a	n/a
8	CCNT2	chr4:85886860-85888131	K562	blood:	n/a	chr4:85887085-85887094 chr4:85887332-85887341 chr4:85886962-85886971
9	CEBPB	chr4:85887836-85888074	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr4:85887735-85888594	IMR90	lung:	n/a	n/a
11	CEBPB	chr4:85887786-85888596	A549	lung:	n/a	n/a
12	CEBPB	chr4:85887812-85888492	HepG2	liver:	n/a	n/a
13	CEBPB	chr4:85887829-85888098	K562	blood:	n/a	n/a
14	CEBPB	chr4:85887596-85888629	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:85887688-85888223	MCF-7	breast:	n/a	n/a
16	CEBPB	chr4:85887915-85888060	HepG2	liver:	n/a	n/a
17	CEBPD	chr4:85886965-85887271	HepG2	liver:	n/a	n/a
18	CEBPD	chr4:85887750-85888145	HepG2	liver:	n/a	n/a
19	CHD1	chr4:85885928-85885974	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr4:85887527-85887886	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr4:85886387-85887319	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr4:85887118-85888023	Hela-S3	cervix:	n/a	chr4:85887333-85887343
23	CHD2	chr4:85887070-85887175	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr4:85887874-85888425	HepG2	liver:	n/a	n/a
25	CREB1	chr4:85886950-85887668	A549	lung:	n/a	n/a
26	CTBP2	chr4:85886711-85888497	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr4:85887080-85887230	GM12865	blood:	n/a	n/a
28	CTCF	chr4:85887800-85887950	AG10803	skin:	n/a	n/a
29	CTCF	chr4:85887780-85887930	HRE	kidney:	n/a	n/a
30	CTCF	chr4:85887100-85887250	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr4:85887034-85887295	HepG2	liver:	n/a	n/a
32	CTCF	chr4:85887840-85887990	BJ	skin:	n/a	n/a
33	CTCF	chr4:85887523-85887670	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:85887976-85887980	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:85887000-85887150	HEK293	kidney:	n/a	n/a
36	CTCF	chr4:85887122-85887280	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr4:85887036-85887351	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr4:85887100-85887250	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr4:85887120-85887270	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr4:85887120-85887270	SAEC	small airway:	n/a	n/a
41	CTCF	chr4:85887856-85887873	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr4:85887180-85887330	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr4:85887060-85887210	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr4:85887819-85887820	Medullo	brain:	n/a	n/a
45	CTCF	chr4:85887140-85887290	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr4:85887196-85887296	Lung_OC	lung:	n/a	n/a
47	CTCF	chr4:85887759-85887942	Lung_OC	lung:	n/a	n/a
48	CTCF	chr4:85887780-85887930	BE2_C	brain:	n/a	n/a
49	CTCF	chr4:85887100-85887163	A549	lung:	n/a	n/a
50	CTCF	chr4:85887736-85888051	IMR90	lung:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:85886830-85886880	PrEC	prostate:	n/a
2	chr4:85886830-85886880	ProgFib	skin:	n/a
3	chr4:85886830-85886880	ECC-1	luminal epithelium:	n/a
4	chr4:85888001-85888051	HCM	heart:	n/a
5	chr4:85887769-85887819	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:85886384-85886434	HEEpiC	esophagus:	n/a
7	chr4:85886830-85886880	K562	blood:	n/a
8	chr4:85888362-85888412	GM06990	blood:	n/a
9	chr4:85887769-85887819	ECC-1	luminal epithelium:	n/a
10	chr4:85887769-85887819	GM12892	blood:	n/a
11	chr4:85888362-85888412	RPTEC	kidney:	n/a
12	chr4:85886384-85886434	BE2_C	brain:	n/a
13	chr4:85888263-85888313	PrEC	prostate:	n/a
14	chr4:85888362-85888412	PANC-1	pancreas:	n/a
15	chr4:85887769-85887819	RPTEC	kidney:	n/a
16	chr4:85888362-85888412	PrEC	prostate:	n/a
17	chr4:85888263-85888313	RPTEC	kidney:	n/a
18	chr4:85886384-85886434	AG10803	skin:	n/a
19	chr4:85887600-85887650	HNPCEpiC	eye:	n/a
20	chr4:85887382-85887432	AG09319	gingival:	n/a
21	chr4:85887600-85887650	HepG2	liver:	n/a
22	chr4:85888001-85888051	A549	lung:	n/a
23	chr4:85888362-85888412	LNCaP	prostate:	n/a
24	chr4:85888362-85888412	SK-N-SH_RA	brain:	n/a
25	chr4:85887769-85887819	ovcar-3	ovarian:	n/a
26	chr4:85888362-85888412	K562	blood:	n/a
27	chr4:85886830-85886880	AoSMC	blood vessel:	n/a
28	chr4:85887769-85887819	NT2-D1	testis:	n/a
29	chr4:85887600-85887650	Hela-S3	cervix:	n/a
30	chr4:85887600-85887650	GM06990	blood:	n/a
31	chr4:85886830-85886880	Jurkat	blood:	n/a
32	chr4:85886384-85886434	GM12878	blood:	n/a
33	chr4:85888263-85888313	A549	lung:	n/a
34	chr4:85886830-85886880	HNPCEpiC	eye:	n/a
35	chr4:85887600-85887650	SAEC	small airway:	n/a
36	chr4:85887600-85887650	MCF10A-Er-Src	breast:	n/a
37	chr4:85887769-85887819	HCT-116	colon:	n/a
38	chr4:85886384-85886434	AoSMC	blood vessel:	n/a
39	chr4:85887600-85887650	HEEpiC	esophagus:	n/a
40	chr4:85887600-85887650	GM19239	blood:	n/a
41	chr4:85886384-85886434	T-47D	breast:	n/a
42	chr4:85888362-85888412	PFSK-1	brain:	n/a
43	chr4:85886384-85886434	NHBE	bronchial:	n/a
44	chr4:85887382-85887432	GM12891	blood:	n/a
45	chr4:85887382-85887432	BJ	skin:	n/a
46	chr4:85887382-85887432	AG04450	lung:	fetal
47	chr4:85887382-85887432	U87	brain:	n/a
48	chr4:85888263-85888313	PFSK-1	brain:	n/a
49	chr4:85888001-85888051	PrEC	prostate:	n/a
50	chr4:85886830-85886880	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:85888138..85888639-chr7:132287182..132287682,2	Hela-S3	cervix:
2	chr4:85879778..85882729-chr4:85884440..85887298,2	K562	blood:
3	chr4:85503502..85505436-chr4:85887662..85889953,2	MCF-7	breast:
4	chr4:85503339..85505737-chr4:85885750..85887907,3	MCF-7	breast:
5	chr4:85673481..85676586-chr4:85887682..85889836,3	MCF-7	breast:
6	chr4:85790487..85793474-chr4:85885792..85887497,2	MCF-7	breast:
7	chr4:85881229..85883388-chr4:85885235..85887298,2	K562	blood:
8	chr4:85820113..85822349-chr4:85884941..85887197,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDS1-2	chr4:85887946-85888280	ENSG00000180769
2	lnc-CDS1-2	chr4:85887971-85888280	NONHSAT097255
3	lnc-CDS1-2	chr4:85887429-85888280	NONHSAT097251
4	lnc-CDS1-2	chr4:85887971-85888280	NR_015359
5	lnc-CDS1-2	chr4:85887538-85888280	ENSG00000180769
6	lnc-CDS1-2	chr4:85887539-85887960	NONHSAT097253

No data

Variant related genes	Relation type
WDFY3	TF binding region
WDFY3-AS2	TF binding region
WDFY3	CpG island
WDFY3-AS2	CpG island
ENSG00000163625	chromatin interactions
ENSG00000163624	chromatin interactions
INPP5B	miRNA target sites
GNPDA2	miRNA target sites

Extended variants
information (count: 87 )
Associated
traits (count: 77 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35454314	chr4:85885975-85885976	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185418779	chr4:85886016-85886017	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189109213	chr4:85886079-85886080	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528456418	chr4:85886087-85886088	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540276089	chr4:85886099-85886100	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561993528	chr4:85886172-85886173	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146773240	chr4:85886190-85886191	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182447523	chr4:85886210-85886211	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372127416	chr4:85886281-85886282	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140616443	chr4:85886307-85886308	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs187080823	chr4:85886411-85886412	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537789884	chr4:85886447-85886448	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552465463	chr4:85886516-85886517	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570767598	chr4:85886633-85886634	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144339041	chr4:85886664-85886665	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553048646	chr4:85886667-85886668	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568050666	chr4:85886703-85886704	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535567980	chr4:85886743-85886744	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191887240	chr4:85886767-85886768	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs67624868	chr4:85886768-85886769	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575762872	chr4:85886788-85886789	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545998449	chr4:85886801-85886802	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557984816	chr4:85886805-85886806	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573249487	chr4:85886809-85886810	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs115760347	chr4:85886818-85886819	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs375233829	chr4:85886887-85886888	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs149199795	chr4:85886902-85886903	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544664683	chr4:85886912-85886913	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs70943383	chr4:85886941-85886942	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182747312	chr4:85886942-85886943	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530681838	chr4:85886950-85886951	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552402982	chr4:85886974-85886975	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570755091	chr4:85886975-85886976	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528434597	chr4:85886993-85886994	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369467342	chr4:85887043-85887044	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546260417	chr4:85887044-85887045	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538628003	chr4:85887054-85887055	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576561265	chr4:85887088-85887089	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545473226	chr4:85887113-85887114	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs143334578	chr4:85887150-85887151	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs533105956	chr4:85887167-85887168	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556979748	chr4:85887233-85887234	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568615797	chr4:85887273-85887274	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs13123388	chr4:85887284-85887285	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539643155	chr4:85887317-85887318	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557970760	chr4:85887349-85887350	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs71597394	chr4:85887427-85887428	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371829724	chr4:85887548-85887549	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs555807181	chr4:85887566-85887567	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs573943951	chr4:85887601-85887602	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85865200-85886400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:85866000-85886200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:85872000-85886600	Weak transcription	Lung	lung
4	chr4:85873400-85886600	Weak transcription	Esophagus	oesophagus
5	chr4:85874600-85886200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:85877400-85886200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:85877600-85886000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:85879600-85886200	Weak transcription	Fetal Lung	lung
9	chr4:85879800-85886200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:85880000-85886000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:85880000-85886200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:85880000-85886200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:85880000-85886200	Weak transcription	NH-A	brain
14	chr4:85880000-85886600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:85880000-85886600	Weak transcription	Spleen	Spleen
16	chr4:85881000-85886200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:85881400-85886000	Weak transcription	A549	lung
18	chr4:85881600-85886200	Weak transcription	Right Ventricle	heart
19	chr4:85883400-85886000	Weak transcription	NHLF	lung
20	chr4:85884200-85886200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:85884800-85886200	Enhancers	Liver	Liver
22	chr4:85885200-85886200	Enhancers	Fetal Brain Male	brain
23	chr4:85885200-85886200	Weak transcription	NHDF-Ad	bronchial
24	chr4:85885200-85886400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:85885200-85886400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:85885200-85886600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
27	chr4:85885200-85886800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr4:85885400-85886000	Enhancers	Gastric	stomach
29	chr4:85885400-85886000	Enhancers	Pancreas	Pancrea
30	chr4:85885400-85886000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:85885400-85886200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:85885400-85886200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:85885400-85886200	Enhancers	Brain Hippocampus Middle	brain
34	chr4:85885400-85886200	Enhancers	Fetal Muscle Leg	muscle
35	chr4:85885400-85886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:85885400-85886400	Enhancers	Duodenum Mucosa	Duodenum
37	chr4:85885400-85886400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:85885400-85886400	Enhancers	Placenta	Placenta
39	chr4:85885400-85886400	Enhancers	Left Ventricle	heart
40	chr4:85885400-85886800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:85885400-85886800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:85885400-85888400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:85885400-85888400	Active TSS	Fetal Kidney	kidney
44	chr4:85885400-85889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:85885600-85886000	Enhancers	Adipose Nuclei	Adipose
46	chr4:85885600-85886200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:85885600-85886200	Enhancers	Right Atrium	heart
48	chr4:85885600-85886800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr4:85885800-85886000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr4:85885800-85886000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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