Variant report

Variant	esv3330340
Chromosome Location	chr16:73091301-73093599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:467)
CpG islands
(count:427)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:73091578-73091755	HepG2	liver:	n/a	n/a
2	BACH1	chr16:73091594-73091724	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr16:73092227-73092436	GM12878	blood:	n/a	chr16:73092375-73092391 chr16:73092380-73092396
4	BHLHE40	chr16:73092959-73093195	A549	lung:	n/a	n/a
5	BRCA1	chr16:73092944-73093333	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr16:73091490-73091661	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr16:73084743-73093728	IMR90	lung:	n/a	chr16:73092049-73092059 chr16:73091379-73091389 chr16:73092358-73092368 chr16:73091670-73091680 chr16:73087450-73087460 chr16:73087960-73087970
8	CHD2	chr16:73092171-73092475	Hela-S3	cervix:	n/a	chr16:73092358-73092368
9	CHD2	chr16:73091365-73091797	Hela-S3	cervix:	n/a	chr16:73091379-73091389 chr16:73091670-73091680
10	CREB1	chr16:73092132-73092481	A549	lung:	n/a	n/a
11	CTBP2	chr16:73091406-73091888	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr16:73092781-73093160	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr16:73091500-73091650	AG09319	gingival:	n/a	n/a
14	CTCF	chr16:73091500-73091650	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr16:73092940-73093090	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr16:73091480-73091630	GM12864	blood:	n/a	n/a
17	CTCF	chr16:73091540-73091690	MCF-7	breast:	n/a	n/a
18	CTCF	chr16:73091460-73091610	HCM	heart:	n/a	n/a
19	CTCF	chr16:73091527-73091709	GM10266	blood:	n/a	n/a
20	CTCF	chr16:73091480-73091630	RPTEC	kidney:	n/a	n/a
21	CTCF	chr16:73091480-73091630	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr16:73091500-73091650	AG04449	skin:	n/a	n/a
23	CTCF	chr16:73092180-73092330	AG04449	skin:	n/a	chr16:73092285-73092298
24	CTCF	chr16:73091500-73091650	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr16:73092249-73092305	GM19238	blood:	n/a	chr16:73092285-73092298
26	CTCF	chr16:73091460-73091610	GM12873	blood:	n/a	n/a
27	CTCF	chr16:73091460-73091610	GM12864	blood:	n/a	n/a
28	CTCF	chr16:73091550-73091641	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr16:73091572-73091731	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr16:73091480-73091630	GM12872	blood:	n/a	n/a
31	CTCF	chr16:73091538-73091608	ProgFib	skin:	n/a	n/a
32	CTCF	chr16:73091380-73091530	GM12872	blood:	n/a	n/a
33	CTCF	chr16:73091493-73091628	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr16:73091480-73091630	GM12873	blood:	n/a	n/a
35	CTCF	chr16:73091567-73091711	GM19239	blood:	n/a	n/a
36	CTCF	chr16:73092300-73092450	NHEK	skin:	n/a	n/a
37	CTCF	chr16:73091597-73091718	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr16:73091540-73091690	Caco-2	colon:	n/a	n/a
39	CTCF	chr16:73092280-73092430	GM12866	blood:	n/a	chr16:73092285-73092298
40	CTCF	chr16:73091480-73091630	HPF	lung:	n/a	n/a
41	CTCF	chr16:73091462-73091622	GM13976	blood:	n/a	n/a
42	CTCF	chr16:73091500-73091650	BJ	skin:	n/a	n/a
43	CTCF	chr16:73091540-73091690	NHEK	skin:	n/a	n/a
44	CTCF	chr16:73091480-73091630	GM12875	blood:	n/a	n/a
45	CTCF	chr16:73091534-73091753	MCF-7	breast:	n/a	n/a
46	CTCF	chr16:73092210-73092460	IMR90	lung:	n/a	chr16:73092285-73092298
47	CTCF	chr16:73091660-73091810	AG04449	skin:	n/a	n/a
48	CTCF	chr16:73091520-73091670	A549	lung:	n/a	n/a
49	CTCF	chr16:73091540-73091690	HRE	kidney:	n/a	n/a
50	CTCF	chr16:73091500-73091650	HMF	breast:	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	chr16:73092823-73092873	GM12878	blood:	n/a
2	chr16:73092823-73092873	NHBE	bronchial:	n/a
3	chr16:73093309-73093359	AoSMC	blood vessel:	n/a
4	chr16:73091565-73091615	HNPCEpiC	eye:	n/a
5	chr16:73091565-73091615	MCF-7	breast:	n/a
6	chr16:73093296-73093346	HCPEpiC	choroid plexus:	n/a
7	chr16:73093309-73093359	ProgFib	skin:	n/a
8	chr16:73092823-73092873	SK-N-MC	brain:	n/a
9	chr16:73091917-73091967	MCF10A-Er-Src	breast:	n/a
10	chr16:73092823-73092873	HCF	heart:	n/a
11	chr16:73092823-73092873	Hepatocyte	liver:	n/a
12	chr16:73091917-73091967	Hepatocyte	liver:	n/a
13	chr16:73093309-73093359	AG10803	skin:	n/a
14	chr16:73092823-73092873	NH-A	brain:	n/a
15	chr16:73092391-73092441	HRPEpiC	eye:	n/a
16	chr16:73092391-73092441	NB4	blood:	n/a
17	chr16:73092391-73092441	HRE	kidney:	n/a
18	chr16:73093296-73093346	NHBE	bronchial:	n/a
19	chr16:73092394-73092444	A549	lung:	n/a
20	chr16:73091565-73091615	HMEC	breast:	n/a
21	chr16:73092394-73092444	HL-60	blood:	n/a
22	chr16:73091565-73091615	ovcar-3	ovarian:	n/a
23	chr16:73093309-73093359	NT2-D1	testis:	n/a
24	chr16:73093309-73093359	T-47D	breast:	n/a
25	chr16:73093309-73093359	BJ	skin:	n/a
26	chr16:73093296-73093346	SAEC	small airway:	n/a
27	chr16:73092394-73092444	HepG2	liver:	n/a
28	chr16:73093296-73093346	BE2_C	brain:	n/a
29	chr16:73093309-73093359	GM12891	blood:	n/a
30	chr16:73092391-73092441	HL-60	blood:	n/a
31	chr16:73092823-73092873	HepG2	liver:	n/a
32	chr16:73092823-73092873	NHDF-neo	bronchial:	n/a
33	chr16:73091565-73091615	SK-N-SH	brain:	n/a
34	chr16:73092391-73092441	HMEC	breast:	n/a
35	chr16:73092823-73092873	HEK293	kidney:	embryo
36	chr16:73091917-73091967	GM12891	blood:	n/a
37	chr16:73091565-73091615	GM12892	blood:	n/a
38	chr16:73091565-73091615	GM19239	blood:	n/a
39	chr16:73092823-73092873	HPAEpiC	pulmonary alveolar:	n/a
40	chr16:73091917-73091967	GM12878	blood:	n/a
41	chr16:73093296-73093346	Hepatocyte	liver:	n/a
42	chr16:73091565-73091615	HUVEC	blood vessel:	n/a
43	chr16:73093296-73093346	Jurkat	blood:	n/a
44	chr16:73093309-73093359	AG09309	skin:	n/a
45	chr16:73093309-73093359	MCF-7	breast:	n/a
46	chr16:73091565-73091615	HCM	heart:	n/a
47	chr16:73093296-73093346	ovcar-3	ovarian:	n/a
48	chr16:73092391-73092441	AoSMC	blood vessel:	n/a
49	chr16:73091565-73091615	Hela-S3	cervix:	n/a
50	chr16:73092823-73092873	HUVEC	blood vessel:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
2	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
3	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
4	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
5	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
6	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
7	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
8	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
9	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
10	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
11	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
12	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
13	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
14	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
15	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
16	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
17	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
18	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:
19	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
20	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
21	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
22	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
23	chr16:73052788..73055370-chr16:73088414..73091315,3	MCF-7	breast:
24	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
25	chr10:98346862..98347651-chr16:73091779..73092585,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ZFHX3	TF binding region
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ZFHX3	CpG island
ENSG00000272250	CpG island
ENSG00000271009	CpG island
ENSG00000077147	chromatin interactions
ENSG00000221799	chromatin interactions
ENSG00000261404	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000101608	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000103035	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111779422	chr16:73091416-73091417	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs115161437	chr16:73091419-73091420	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs60945619	chr16:73091435-73091436	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs77635810	chr16:73091447-73091448	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs565392188	chr16:73091466-73091467	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs532557751	chr16:73091521-73091522	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs550663711	chr16:73091529-73091530	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs62055081	chr16:73091589-73091590	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113437386	chr16:73091592-73091593	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs7202196	chr16:73091600-73091601	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs566371997	chr16:73091646-73091647	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs533701658	chr16:73091658-73091659	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs558819908	chr16:73091685-73091686	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs570627166	chr16:73091705-73091706	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs375384356	chr16:73091737-73091738	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs555921199	chr16:73091740-73091741	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs574352916	chr16:73091745-73091746	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs541985052	chr16:73091847-73091848	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs184941562	chr16:73091920-73091921	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs544114435	chr16:73092162-73092163	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs563780064	chr16:73092174-73092175	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs573477081	chr16:73092176-73092177	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs540799739	chr16:73092215-73092216	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs142472889	chr16:73092220-73092221	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs532726232	chr16:73092222-73092223	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs190236458	chr16:73092257-73092258	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs562790031	chr16:73092376-73092377	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs532746572	chr16:73092380-73092381	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs530030455	chr16:73092386-73092387	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs548288914	chr16:73092390-73092391	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs566583259	chr16:73092394-73092395	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs527504892	chr16:73092397-73092398	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs552052714	chr16:73092571-73092572	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs552488803	chr16:73092596-73092597	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs571058488	chr16:73092598-73092599	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs373223830	chr16:73092754-73092755	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs537779643	chr16:73092769-73092770	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs556412900	chr16:73092775-73092776	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs568070677	chr16:73092805-73092806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs535392275	chr16:73092809-73092810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs532710699	chr16:73092817-73092818	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs369507023	chr16:73092818-73092819	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs547025423	chr16:73092840-73092841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs377315488	chr16:73092861-73092862	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs553926138	chr16:73092949-73092950	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs571178028	chr16:73093008-73093009	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs528489204	chr16:73093012-73093013	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs146875021	chr16:73093021-73093022	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs12934016	chr16:73093040-73093041	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs12933631	chr16:73093043-73093044	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087600-73091400	Weak transcription	Spleen	Spleen
2	chr16:73087800-73091400	Weak transcription	Lung	lung
3	chr16:73087800-73099200	Active TSS	Aorta	Aorta
4	chr16:73088200-73095200	Active TSS	Right Atrium	heart
5	chr16:73088600-73091400	Flanking Active TSS	NHEK	skin
6	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
7	chr16:73089200-73091400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr16:73089200-73091600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
10	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr16:73089400-73091400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr16:73089400-73091800	Active TSS	Brain Anterior Caudate	brain
13	chr16:73089600-73091400	Weak transcription	Esophagus	oesophagus
14	chr16:73089600-73091400	Weak transcription	Gastric	stomach
15	chr16:73089600-73093000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
17	chr16:73089800-73091400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:73089800-73091400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr16:73089800-73091400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:73089800-73091600	Flanking Active TSS	HUVEC	blood vessel
21	chr16:73089800-73091800	Active TSS	Brain Substantia Nigra	brain
22	chr16:73089800-73091800	Active TSS	NHDF-Ad	bronchial
23	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
24	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
25	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
26	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
27	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:73090000-73094200	Active TSS	NHLF	lung
29	chr16:73090000-73095200	Active TSS	HSMM	muscle
30	chr16:73090200-73091600	Bivalent/Poised TSS	HepG2	liver
31	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
32	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:73090400-73091600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr16:73090400-73091600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr16:73090400-73092000	Active TSS	Brain Angular Gyrus	brain
36	chr16:73090400-73093000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:73090400-73093400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr16:73090400-73093600	Active TSS	Ovary	ovary
40	chr16:73090600-73091400	Flanking Active TSS	Fetal Kidney	kidney
41	chr16:73090600-73092800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:73090800-73091400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:73090800-73091400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr16:73090800-73091400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr16:73090800-73091400	Weak transcription	Small Intestine	intestine
46	chr16:73090800-73091400	Flanking Active TSS	HMEC	breast
47	chr16:73090800-73091600	Active TSS	Placenta	Placenta
48	chr16:73090800-73093000	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr16:73090800-73093000	Active TSS	Hela-S3	cervix
50	chr16:73090800-73093200	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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