Variant report

Variant	nsv572960
Chromosome Location	chr16:73090039-73092950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:568)
CpG islands
(count:488)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:73087215-73090250	HepG2	liver:	n/a	chr16:73088864-73088880
2	ARID3A	chr16:73090636-73091153	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:73091578-73091755	HepG2	liver:	n/a	n/a
4	BACH1	chr16:73091594-73091724	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr16:73089380-73090159	A549	lung:	n/a	n/a
6	BHLHE40	chr16:73092227-73092436	GM12878	blood:	n/a	chr16:73092375-73092391 chr16:73092380-73092396
7	BHLHE40	chr16:73089253-73090123	HepG2	liver:	n/a	n/a
8	BHLHE40	chr16:73091019-73091030	HepG2	liver:	n/a	n/a
9	BRCA1	chr16:73092944-73093333	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr16:73086734-73090278	Hela-S3	cervix:	n/a	chr16:73089202-73089209
11	CEBPB	chr16:73089704-73090186	HepG2	liver:	n/a	n/a
12	CEBPB	chr16:73089898-73090191	HepG2	liver:	n/a	n/a
13	CEBPB	chr16:73089729-73090385	A549	lung:	n/a	n/a
14	CEBPB	chr16:73091490-73091661	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr16:73088499-73090319	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr16:73089919-73090269	A549	lung:	n/a	n/a
17	CEBPB	chr16:73089686-73090243	HepG2	liver:	n/a	n/a
18	CEBPB	chr16:73089494-73090297	IMR90	lung:	n/a	n/a
19	CEBPB	chr16:73089246-73090249	HepG2	liver:	n/a	n/a
20	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
21	CHD2	chr16:73092171-73092475	Hela-S3	cervix:	n/a	chr16:73092358-73092368
22	CHD2	chr16:73091365-73091797	Hela-S3	cervix:	n/a	chr16:73091379-73091389 chr16:73091670-73091680
23	CHD2	chr16:73087046-73090226	Hela-S3	cervix:	n/a	chr16:73087450-73087460 chr16:73087960-73087970
24	CHD2	chr16:73089771-73090077	HepG2	liver:	n/a	n/a
25	CREB1	chr16:73092132-73092481	A549	lung:	n/a	n/a
26	CTBP2	chr16:73091406-73091888	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTBP2	chr16:73092781-73093160	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr16:73091480-73091630	HPF	lung:	n/a	n/a
29	CTCF	chr16:73091500-73091650	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr16:73091480-73091630	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr16:73091187-73092026	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr16:73091500-73091650	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr16:73091420-73091570	GM06990	blood:	n/a	n/a
34	CTCF	chr16:73092940-73093090	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr16:73091520-73091670	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr16:73091480-73091630	GM12873	blood:	n/a	n/a
37	CTCF	chr16:73091400-73091690	WI-38	lung:	n/a	n/a
38	CTCF	chr16:73091520-73091704	MCF-7	breast:	n/a	n/a
39	CTCF	chr16:73091520-73091670	GM12867	blood:	n/a	n/a
40	CTCF	chr16:73091480-73091630	GM12864	blood:	n/a	n/a
41	CTCF	chr16:73091480-73091630	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr16:73091501-73091704	A549	lung:	n/a	n/a
43	CTCF	chr16:73091500-73091650	HVMF	connective:	n/a	n/a
44	CTCF	chr16:73091569-73091642	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr16:73091500-73091650	GM12874	blood:	n/a	n/a
46	CTCF	chr16:73091567-73091711	GM19239	blood:	n/a	n/a
47	CTCF	chr16:73092210-73092460	IMR90	lung:	n/a	chr16:73092285-73092298
48	CTCF	chr16:73091480-73091630	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr16:73091462-73091622	GM13976	blood:	n/a	n/a
50	CTCF	chr16:73091540-73091690	HVMF	connective:	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	chr16:73091565-73091615	GM12891	blood:	n/a
2	chr16:73092823-73092873	PFSK-1	brain:	n/a
3	chr16:73090838-73090888	Hela-S3	cervix:	n/a
4	chr16:73092823-73092873	Caco-2	colon:	n/a
5	chr16:73091917-73091967	AG04449	skin:	fetal
6	chr16:73090646-73090696	GM12878	blood:	n/a
7	chr16:73090646-73090696	GM19239	blood:	n/a
8	chr16:73092823-73092873	Hela-S3	cervix:	n/a
9	chr16:73090646-73090696	HCT-116	colon:	n/a
10	chr16:73091917-73091967	K562	blood:	n/a
11	chr16:73091565-73091615	NT2-D1	testis:	n/a
12	chr16:73092394-73092444	AG10803	skin:	n/a
13	chr16:73092823-73092873	AG09309	skin:	n/a
14	chr16:73090723-73090773	HL-60	blood:	n/a
15	chr16:73092391-73092441	ovcar-3	ovarian:	n/a
16	chr16:73090723-73090773	HAEpiC	amniotic membrane:	n/a
17	chr16:73092394-73092444	HEK293	kidney:	embryo
18	chr16:73090838-73090888	SK-N-MC	brain:	n/a
19	chr16:73091917-73091967	ovcar-3	ovarian:	n/a
20	chr16:73092394-73092444	MCF-7	breast:	n/a
21	chr16:73090646-73090696	ECC-1	luminal epithelium:	n/a
22	chr16:73091917-73091967	U87	brain:	n/a
23	chr16:73090646-73090696	CMK	blood:	n/a
24	chr16:73091917-73091967	Hepatocyte	liver:	n/a
25	chr16:73090646-73090696	Hela-S3	cervix:	n/a
26	chr16:73090646-73090696	GM12892	blood:	n/a
27	chr16:73092823-73092873	AG04449	skin:	fetal
28	chr16:73091917-73091967	BJ	skin:	n/a
29	chr16:73092823-73092873	Hepatocyte	liver:	n/a
30	chr16:73092391-73092441	HCPEpiC	choroid plexus:	n/a
31	chr16:73091565-73091615	SAEC	small airway:	n/a
32	chr16:73091917-73091967	LNCaP	prostate:	n/a
33	chr16:73091565-73091615	RPTEC	kidney:	n/a
34	chr16:73091917-73091967	NHDF-neo	bronchial:	n/a
35	chr16:73092391-73092441	HRCEpiC	kidney:	n/a
36	chr16:73090838-73090888	HL-60	blood:	n/a
37	chr16:73092394-73092444	A549	lung:	n/a
38	chr16:73090646-73090696	HCF	heart:	n/a
39	chr16:73091565-73091615	BE2_C	brain:	n/a
40	chr16:73090646-73090696	GM06990	blood:	n/a
41	chr16:73092394-73092444	K562	blood:	n/a
42	chr16:73092823-73092873	PrEC	prostate:	n/a
43	chr16:73091917-73091967	BE2_C	brain:	n/a
44	chr16:73090646-73090696	SKMC	muscle:	n/a
45	chr16:73092391-73092441	IMR90	lung:	fetal
46	chr16:73090646-73090696	AG04449	skin:	fetal
47	chr16:73092394-73092444	HCT-116	colon:	n/a
48	chr16:73090723-73090773	AG09309	skin:	n/a
49	chr16:73092391-73092441	A549	lung:	n/a
50	chr16:73092391-73092441	NHDF-neo	bronchial:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
2	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
3	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
4	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
5	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
6	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
7	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
8	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
9	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
10	chr10:98346862..98347651-chr16:73091779..73092585,2	Hela-S3	cervix:
11	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
12	chr16:72820675..72822937-chr16:73088411..73090468,2	MCF-7	breast:
13	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
14	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
15	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
16	chr16:72833626..72835422-chr16:73088428..73090096,2	MCF-7	breast:
17	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
18	chr16:72849283..72851789-chr16:73089410..73091009,2	MCF-7	breast:
19	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
20	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
21	chr16:73088393..73091029-chr16:73316559..73318962,2	MCF-7	breast:
22	chr16:73052788..73055370-chr16:73088414..73091315,3	MCF-7	breast:
23	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
24	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
25	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
26	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
27	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:
28	chr16:73088683..73091239-chr17:62222998..62225387,2	MCF-7	breast:
29	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
30	chr16:73081344..73082144-chr16:73090114..73090753,2	MCF-7	breast:
31	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
32	chr16:72943044..72944852-chr16:73087640..73090258,2	MCF-7	breast:
33	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ENSG00000272250	CpG island
ENSG00000271009	CpG island
ENSG00000101608	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000103035	chromatin interactions
ENSG00000221799	chromatin interactions
ENSG00000261404	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000265573	chromatin interactions
ENSG00000061273	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8048267	chr16:73090039-73090040	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539167985	chr16:73090071-73090072	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs577704363	chr16:73090085-73090086	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs139083516	chr16:73090097-73090098	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs8048140	chr16:73090103-73090104	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536011175	chr16:73090113-73090114	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs372121828	chr16:73090136-73090137	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs142992177	chr16:73090208-73090209	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs60236831	chr16:73090217-73090218	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs565540870	chr16:73090235-73090236	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs527910543	chr16:73090268-73090269	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs547963966	chr16:73090277-73090278	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs369205789	chr16:73090295-73090296	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs540119113	chr16:73090340-73090341	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs564569553	chr16:73090345-73090346	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs576761205	chr16:73090352-73090353	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs544338423	chr16:73090362-73090363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs147486635	chr16:73090399-73090400	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs531138761	chr16:73090408-73090409	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs549570463	chr16:73090530-73090531	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs530257964	chr16:73090535-73090536	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs561585270	chr16:73090540-73090541	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs528822379	chr16:73090592-73090593	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs547308976	chr16:73090595-73090596	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs550246075	chr16:73090701-73090702	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs571654797	chr16:73090703-73090704	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs538615256	chr16:73090767-73090768	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs374781506	chr16:73090783-73090784	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs551054570	chr16:73090795-73090796	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs569221454	chr16:73090845-73090846	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs536056597	chr16:73090896-73090897	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs191232111	chr16:73090966-73090967	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs139929335	chr16:73090992-73090993	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs368808730	chr16:73091044-73091045	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs558423104	chr16:73091058-73091059	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs576784908	chr16:73091060-73091061	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs367686331	chr16:73091079-73091080	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs543814509	chr16:73091080-73091081	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs149620930	chr16:73091092-73091093	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs574416924	chr16:73091119-73091120	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs144320470	chr16:73091151-73091152	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs561511830	chr16:73091156-73091157	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs376311903	chr16:73091198-73091199	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73082600-73090400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:73083200-73090600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:73085800-73091000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:73086400-73091000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:73087000-73090800	Enhancers	HMEC	breast
7	chr16:73087200-73091200	Enhancers	Primary hematopoietic stem cells	blood
8	chr16:73087600-73091400	Weak transcription	Spleen	Spleen
9	chr16:73087800-73090200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:73087800-73090400	Weak transcription	Ovary	ovary
11	chr16:73087800-73090800	Enhancers	Small Intestine	intestine
12	chr16:73087800-73091400	Weak transcription	Lung	lung
13	chr16:73087800-73099200	Active TSS	Aorta	Aorta
14	chr16:73088200-73091000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr16:73088200-73095200	Active TSS	Right Atrium	heart
16	chr16:73088400-73090400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr16:73088400-73090600	Bivalent Enhancer	Fetal Thymus	thymus
18	chr16:73088400-73090800	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr16:73088400-73090800	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr16:73088400-73091000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:73088400-73091200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:73088400-73091200	Flanking Active TSS	Osteobl	bone
23	chr16:73088600-73090200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr16:73088600-73090800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:73088600-73090800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:73088600-73090800	Flanking Active TSS	Fetal Lung	lung
27	chr16:73088600-73090800	Flanking Active TSS	Hela-S3	cervix
28	chr16:73088600-73091000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:73088600-73091000	Enhancers	Fetal Heart	heart
30	chr16:73088600-73091000	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr16:73088600-73091000	Bivalent Enhancer	Dnd41	blood
32	chr16:73088600-73091400	Flanking Active TSS	NHEK	skin
33	chr16:73088800-73090400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr16:73088800-73090400	Bivalent Enhancer	Primary T cells from cord blood	blood
35	chr16:73088800-73091000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:73088800-73091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
38	chr16:73089000-73090200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr16:73089000-73090200	Active TSS	A549	lung
40	chr16:73089200-73090200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr16:73089200-73090600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr16:73089200-73090800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:73089200-73090800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr16:73089200-73091400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr16:73089200-73091600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
47	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr16:73089400-73090200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr16:73089400-73090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:73089400-73091200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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