Variant report

Variant	esv3386459
Chromosome Location	chr4:85886478-85888576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:521)
CpG islands
(count:427)
Chromatin interactive
region (count:8)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:521 , 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	chr4:85888178-85888727	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:85886751-85887443	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr4:85887728-85887924	K562	blood:	n/a	n/a
6	BRCA1	chr4:85887670-85887763	HepG2	liver:	n/a	n/a
7	BRCA1	chr4:85888159-85888550	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	chr4:85887915-85888060	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:85887786-85888596	A549	lung:	n/a	n/a
11	CEBPB	chr4:85887829-85888098	K562	blood:	n/a	n/a
12	CEBPB	chr4:85887596-85888629	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr4:85887688-85888223	MCF-7	breast:	n/a	n/a
14	CEBPB	chr4:85887836-85888074	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:85887812-85888492	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:85887735-85888594	IMR90	lung:	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	chr4:85886387-85887319	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr4:85887527-85887886	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr4:85887070-85887175	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr4:85887874-85888425	HepG2	liver:	n/a	n/a
23	CHD2	chr4:85887118-85888023	Hela-S3	cervix:	n/a	chr4:85887333-85887343
24	CREB1	chr4:85886950-85887668	A549	lung:	n/a	n/a
25	CTBP2	chr4:85886711-85888497	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr4:85887200-85887350	NHEK	skin:	n/a	n/a
27	CTCF	chr4:85887997-85888079	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:85887286-85887291	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr4:85886960-85887110	HVMF	connective:	n/a	n/a
30	CTCF	chr4:85887760-85887910	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr4:85887206-85887297	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr4:85887982-85888051	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:85887820-85887970	HMF	breast:	n/a	n/a
34	CTCF	chr4:85886935-85887081	NHEK	skin:	n/a	n/a
35	CTCF	chr4:85887820-85887970	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr4:85887535-85887665	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:85887100-85887250	AG04450	lung:	n/a	n/a
38	CTCF	chr4:85886860-85887010	HRE	kidney:	n/a	chr4:85886927-85886940
39	CTCF	chr4:85887760-85887910	HAc	cerebellar:	n/a	n/a
40	CTCF	chr4:85887740-85887890	HVMF	connective:	n/a	n/a
41	CTCF	chr4:85887060-85887210	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr4:85886760-85886910	BE2_C	brain:	n/a	n/a
43	CTCF	chr4:85887196-85887296	Lung_OC	lung:	n/a	n/a
44	CTCF	chr4:85887830-85888096	Fibrobl	skin:	n/a	n/a
45	CTCF	chr4:85887787-85887992	NHEK	skin:	n/a	n/a
46	CTCF	chr4:85887840-85887990	BJ	skin:	n/a	n/a
47	CTCF	chr4:85887840-85887990	SAEC	small airway:	n/a	n/a
48	CTCF	chr4:85887822-85887951	Medullo	brain:	n/a	n/a
49	CTCF	chr4:85887120-85887270	Caco-2	colon:	n/a	n/a
50	CTCF	chr4:85887099-85887260	Gliobla	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:85888362-85888412	AG09309	skin:	n/a
2	chr4:85887600-85887650	MCF-7	breast:	n/a
3	chr4:85888001-85888051	RPTEC	kidney:	n/a
4	chr4:85887769-85887819	NHDF-neo	bronchial:	n/a
5	chr4:85888362-85888412	GM06990	blood:	n/a
6	chr4:85888362-85888412	HCT-116	colon:	n/a
7	chr4:85887382-85887432	A549	lung:	n/a
8	chr4:85887600-85887650	K562	blood:	n/a
9	chr4:85888001-85888051	IMR90	lung:	fetal
10	chr4:85886830-85886880	NH-A	brain:	n/a
11	chr4:85887382-85887432	MCF-7	breast:	n/a
12	chr4:85887769-85887819	RPTEC	kidney:	n/a
13	chr4:85888001-85888051	AG10803	skin:	n/a
14	chr4:85888001-85888051	MCF-7	breast:	n/a
15	chr4:85886830-85886880	SAEC	small airway:	n/a
16	chr4:85888001-85888051	AG09319	gingival:	n/a
17	chr4:85888263-85888313	RPTEC	kidney:	n/a
18	chr4:85888362-85888412	AG10803	skin:	n/a
19	chr4:85887600-85887650	HCM	heart:	n/a
20	chr4:85887600-85887650	NHDF-neo	bronchial:	n/a
21	chr4:85886830-85886880	AG09319	gingival:	n/a
22	chr4:85886830-85886880	PrEC	prostate:	n/a
23	chr4:85888362-85888412	PFSK-1	brain:	n/a
24	chr4:85888001-85888051	HCF	heart:	n/a
25	chr4:85888362-85888412	AG04449	skin:	fetal
26	chr4:85886830-85886880	HNPCEpiC	eye:	n/a
27	chr4:85887769-85887819	HCM	heart:	n/a
28	chr4:85886830-85886880	SK-N-SH_RA	brain:	n/a
29	chr4:85887769-85887819	SK-N-SH_RA	brain:	n/a
30	chr4:85888001-85888051	PrEC	prostate:	n/a
31	chr4:85888263-85888313	LNCaP	prostate:	n/a
32	chr4:85887600-85887650	HIPEpiC	eye:	n/a
33	chr4:85886830-85886880	GM12892	blood:	n/a
34	chr4:85888362-85888412	A549	lung:	n/a
35	chr4:85888263-85888313	HEEpiC	esophagus:	n/a
36	chr4:85887382-85887432	HCT-116	colon:	n/a
37	chr4:85887769-85887819	IMR90	lung:	fetal
38	chr4:85887382-85887432	GM12891	blood:	n/a
39	chr4:85887382-85887432	HRCEpiC	kidney:	n/a
40	chr4:85888263-85888313	HL-60	blood:	n/a
41	chr4:85888001-85888051	HIPEpiC	eye:	n/a
42	chr4:85888362-85888412	HCF	heart:	n/a
43	chr4:85887600-85887650	AoSMC	blood vessel:	n/a
44	chr4:85887382-85887432	HRE	kidney:	n/a
45	chr4:85887600-85887650	GM19239	blood:	n/a
46	chr4:85888362-85888412	AG09319	gingival:	n/a
47	chr4:85887600-85887650	HRPEpiC	eye:	n/a
48	chr4:85886830-85886880	H1-hESC	embryonic stem cell:	embryo
49	chr4:85887382-85887432	T-47D	breast:	n/a
50	chr4:85887382-85887432	HL-60	blood:	n/a

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

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

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

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

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: 75 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	rs544289425	chr4:85887631-85887632	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
40	rs562952804	chr4:85887670-85887671	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 Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs375837787	chr4:85887698-85887699	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 Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs375963137	chr4:85887733-85887734	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 Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs368995313	chr4:85887738-85887739	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 Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs199628969	chr4:85887789-85887790	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	4 gene(s)	Overlapped CNVs	n/a
45	rs185834791	chr4:85887824-85887825	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs140577986	chr4:85887835-85887836	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs546009507	chr4:85887877-85887878	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs564304957	chr4:85887892-85887893	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs528370352	chr4:85887896-85887897	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs546842308	chr4:85887927-85887928	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 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:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85872000-85886600	Weak transcription	Lung	lung
2	chr4:85873400-85886600	Weak transcription	Esophagus	oesophagus
3	chr4:85880000-85886600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:85880000-85886600	Weak transcription	Spleen	Spleen
5	chr4:85885200-85886600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
6	chr4:85885200-85886800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr4:85885400-85886800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:85885400-85886800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:85885400-85888400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:85885400-85888400	Active TSS	Fetal Kidney	kidney
11	chr4:85885400-85889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:85885600-85886800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr4:85885800-85886600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:85885800-85886800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:85885800-85886800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:85885800-85886800	Flanking Active TSS	NHEK	skin
17	chr4:85885800-85888400	Active TSS	Brain Anterior Caudate	brain
18	chr4:85885800-85888400	Active TSS	HMEC	breast
19	chr4:85885800-85888600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:85885800-85888600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:85885800-85888600	Active TSS	HSMM	muscle
22	chr4:85885800-85889000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:85885800-85889000	Active TSS	Fetal Brain Female	brain
24	chr4:85885800-85889000	Active TSS	Ovary	ovary
25	chr4:85885800-85889000	Active TSS	Psoas Muscle	Psoas
26	chr4:85886000-85886600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:85886000-85886600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr4:85886000-85886600	Weak transcription	Gastric	stomach
29	chr4:85886000-85886600	Weak transcription	Pancreas	Pancrea
30	chr4:85886000-85886600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:85886000-85886600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr4:85886000-85886600	Flanking Active TSS	HUVEC	blood vessel
33	chr4:85886000-85886800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:85886000-85888400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr4:85886000-85888400	Active TSS	Brain Germinal Matrix	brain
36	chr4:85886000-85888400	Active TSS	Fetal Intestine Large	intestine
37	chr4:85886000-85888600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr4:85886000-85888800	Active TSS	Brain Angular Gyrus	brain
39	chr4:85886000-85889000	Active TSS	Aorta	Aorta
40	chr4:85886000-85889000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr4:85886000-85889000	Active TSS	HSMMtube	muscle
42	chr4:85886000-85889000	Active TSS	NHLF	lung
43	chr4:85886000-85889200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:85886200-85886600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr4:85886200-85886600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:85886200-85886600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:85886200-85886600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr4:85886200-85886600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr4:85886200-85886600	Flanking Active TSS	A549	lung
50	chr4:85886200-85886800	Flanking Active TSS	Fetal Heart	heart

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