Variant report

Variant	esv1799115
Chromosome Location	chr16:47177338-47224693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:953)
CpG islands
(count:795)
Chromatin interactive
region (count:27)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:47180937-47181312	K562	blood:	n/a	n/a
2	ARID3A	chr16:47178303-47178477	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:47196782-47196800	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:47177441-47177480	K562	blood:	n/a	n/a
5	ARID3A	chr16:47216266-47216628	HepG2	liver:	n/a	n/a
6	ATF1	chr16:47197545-47197587	K562	blood:	n/a	n/a
7	ATF3	chr16:47177260-47177528	K562	blood:	n/a	n/a
8	BACH1	chr16:47176731-47177908	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr16:47178178-47178180	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCLAF1	chr16:47177271-47177669	GM12878	blood:	n/a	chr16:47177425-47177438 chr16:47177593-47177602 chr16:47177563-47177572
11	BCLAF1	chr16:47177145-47177707	GM12878	blood:	n/a	chr16:47177425-47177438 chr16:47177593-47177602 chr16:47177563-47177572
12	BHLHE40	chr16:47177272-47178380	K562	blood:	n/a	chr16:47178152-47178168 chr16:47177449-47177465 chr16:47178004-47178020 chr16:47178144-47178160
13	BHLHE40	chr16:47176815-47178581	GM12878	blood:	n/a	chr16:47178152-47178168 chr16:47176993-47177009 chr16:47176944-47176960 chr16:47177449-47177465 chr16:47178004-47178020 chr16:47178144-47178160
14	BHLHE40	chr16:47177335-47177732	HepG2	liver:	n/a	chr16:47177449-47177465
15	BRCA1	chr16:47178549-47178596	HepG2	liver:	n/a	n/a
16	BRCA1	chr16:47178424-47178462	GM12878	blood:	n/a	n/a
17	CBX3	chr16:47177298-47177690	K562	blood:	n/a	n/a
18	CBX3	chr16:47186439-47186720	K562	blood:	n/a	n/a
19	CBX3	chr16:47178273-47178641	K562	blood:	n/a	n/a
20	CCNT2	chr16:47176712-47178516	K562	blood:	n/a	chr16:47177471-47177480
21	CEBPB	chr16:47200686-47201114	K562	blood:	n/a	chr16:47200944-47200955
22	CEBPB	chr16:47200649-47200997	H1-hESC	embryonic stem cell:	n/a	chr16:47200944-47200955
23	CEBPB	chr16:47200672-47201053	IMR90	lung:	n/a	chr16:47200944-47200955
24	CEBPB	chr16:47200715-47201106	Hela-S3	cervix:	n/a	chr16:47200944-47200955
25	CEBPB	chr16:47191034-47191176	A549	lung:	n/a	n/a
26	CEBPB	chr16:47204026-47204294	HepG2	liver:	n/a	n/a
27	CEBPB	chr16:47190960-47191084	HepG2	liver:	n/a	chr16:47191006-47191019 chr16:47191007-47191018
28	CEBPB	chr16:47178282-47178496	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr16:47200763-47200991	A549	lung:	n/a	chr16:47200944-47200955
30	CEBPB	chr16:47200673-47201099	HepG2	liver:	n/a	chr16:47200944-47200955
31	CHD1	chr16:47177306-47177565	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr16:47175582-47177806	GM12878	blood:	n/a	n/a
33	CHD2	chr16:47181063-47181156	K562	blood:	n/a	n/a
34	CHD2	chr16:47178275-47178589	K562	blood:	n/a	n/a
35	CHD2	chr16:47177667-47177736	K562	blood:	n/a	n/a
36	CHD2	chr16:47178435-47178563	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr16:47177538-47177738	HepG2	liver:	n/a	n/a
38	CHD2	chr16:47177362-47178613	Hela-S3	cervix:	n/a	chr16:47178587-47178597 chr16:47177861-47177871
39	CHD2	chr16:47178308-47178579	GM12878	blood:	n/a	n/a
40	CREB1	chr16:47177189-47177703	K562	blood:	n/a	n/a
41	CREB1	chr16:47177138-47178454	A549	lung:	n/a	n/a
42	CREB1	chr16:47176829-47177782	HepG2	liver:	n/a	n/a
43	CREB1	chr16:47177212-47177641	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr16:47176716-47177734	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTBP2	chr16:47178097-47178658	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr16:47177321-47177554	Medullo	brain:	n/a	chr16:47177448-47177461 chr16:47177445-47177463
47	CTCF	chr16:47196760-47196910	GM12878	blood:	n/a	n/a
48	CTCF	chr16:47178300-47178450	GM12865	blood:	n/a	n/a
49	CTCF	chr16:47178280-47178430	K562	blood:	n/a	n/a
50	CTCF	chr16:47196757-47196867	MCF-7	breast:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:47214942-47214992	SK-N-MC	brain:	n/a
2	chr16:47216988-47217038	HIPEpiC	eye:	n/a
3	chr16:47214942-47214992	SK-N-MC	brain:	n/a
4	chr16:47216988-47217038	HIPEpiC	eye:	n/a
5	chr16:47214942-47214992	HPAEpiC	pulmonary alveolar:	n/a
6	chr16:47177603-47177653	ovcar-3	ovarian:	n/a
7	chr16:47216988-47217038	AG10803	skin:	n/a
8	chr16:47178250-47178300	NHDF-neo	bronchial:	n/a
9	chr16:47178357-47178407	LNCaP	prostate:	n/a
10	chr16:47177480-47177530	HEK293	kidney:	embryo
11	chr16:47177480-47177530	A549	lung:	n/a
12	chr16:47178723-47178773	PFSK-1	brain:	n/a
13	chr16:47178359-47178409	LNCaP	prostate:	n/a
14	chr16:47177603-47177653	GM12891	blood:	n/a
15	chr16:47216988-47217038	ovcar-3	ovarian:	n/a
16	chr16:47178070-47178120	GM06990	blood:	n/a
17	chr16:47177603-47177653	MCF-7	breast:	n/a
18	chr16:47177480-47177530	HPAEpiC	pulmonary alveolar:	n/a
19	chr16:47178250-47178300	HCM	heart:	n/a
20	chr16:47178250-47178300	HIPEpiC	eye:	n/a
21	chr16:47177603-47177653	HCT-116	colon:	n/a
22	chr16:47178067-47178117	HEK293	kidney:	embryo
23	chr16:47178067-47178117	HMEC	breast:	n/a
24	chr16:47178078-47178128	GM12892	blood:	n/a
25	chr16:47178359-47178409	SK-N-SH	brain:	n/a
26	chr16:47178070-47178120	HMEC	breast:	n/a
27	chr16:47178250-47178300	HRE	kidney:	n/a
28	chr16:47178250-47178300	HMEC	breast:	n/a
29	chr16:47178723-47178773	GM06990	blood:	n/a
30	chr16:47181961-47182011	PrEC	prostate:	n/a
31	chr16:47181961-47182011	HMEC	breast:	n/a
32	chr16:47178070-47178120	AG04449	skin:	fetal
33	chr16:47177603-47177653	GM06990	blood:	n/a
34	chr16:47177480-47177530	AG04450	lung:	fetal
35	chr16:47177603-47177653	U87	brain:	n/a
36	chr16:47177603-47177653	HCPEpiC	choroid plexus:	n/a
37	chr16:47178078-47178128	GM12891	blood:	n/a
38	chr16:47181961-47182011	MCF10A-Er-Src	breast:	n/a
39	chr16:47178250-47178300	HPAEpiC	pulmonary alveolar:	n/a
40	chr16:47181961-47182011	Hela-S3	cervix:	n/a
41	chr16:47178070-47178120	HAEpiC	amniotic membrane:	n/a
42	chr16:47181961-47182011	AoSMC	blood vessel:	n/a
43	chr16:47216988-47217038	HUVEC	blood vessel:	n/a
44	chr16:47178078-47178128	HRE	kidney:	n/a
45	chr16:47177480-47177530	LNCaP	prostate:	n/a
46	chr16:47178078-47178128	AG09319	gingival:	n/a
47	chr16:47178078-47178128	ECC-1	luminal epithelium:	n/a
48	chr16:47178078-47178128	HPAEpiC	pulmonary alveolar:	n/a
49	chr16:47181961-47182011	AG09319	gingival:	n/a
50	chr16:47178359-47178409	RPTEC	kidney:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:47175296..47177509-chr16:48190040..48191217,7	MCF-7	breast:
2	chr16:47178986..47180526-chr16:47182698..47184295,2	K562	blood:
3	chr16:47203225..47205164-chr16:47207074..47209665,2	K562	blood:
4	chr16:47175524..47179141-chr16:47493736..47496005,3	MCF-7	breast:
5	chr16:47177500..47180441-chr16:47180510..47182693,2	K562	blood:
6	chr16:47189381..47191014-chr16:47191815..47193762,2	K562	blood:
7	chr16:47189381..47191014-chr16:47191815..47193762,2	K562	blood:
8	chr16:47174837..47177337-chr16:47189035..47191316,2	K562	blood:
9	chr16:47177383..47180950-chr16:47184423..47188537,5	K562	blood:
10	chr16:47178385..47180317-chr16:47705518..47707688,2	K562	blood:
11	chr1:8938804..8939443-chr16:47177378..47177897,2	Hela-S3	cervix:
12	chr16:47177997..47179501-chr16:47190203..47192834,2	K562	blood:
13	chr16:47176370..47177924-chr16:47205584..47208161,2	MCF-7	breast:
14	chr16:47180495..47185251-chr16:47187387..47190587,4	K562	blood:
15	chr16:47178986..47180526-chr16:47182698..47184295,2	K562	blood:
16	chr16:47184664..47186977-chr16:47194583..47196786,2	K562	blood:
17	chr16:47201430..47205164-chr16:47207074..47210552,4	K562	blood:
18	chr16:47184664..47186977-chr16:47194583..47196786,2	K562	blood:
19	chr16:47201430..47205164-chr16:47207074..47210552,4	K562	blood:
20	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
21	chr16:47174790..47177797-chr16:47493413..47496816,5	K562	blood:
22	chr16:47189136..47190025-chr20:45802278..45803128,2	MCF-7	breast:
23	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:
24	chr16:47175994..47177897-chr16:48278487..48280949,2	MCF-7	breast:
25	chr16:47176885..47177462-chr16:47479483..47480444,2	K562	blood:
26	chr16:47177383..47180950-chr16:47184423..47188537,5	K562	blood:
27	chr16:47203225..47205164-chr16:47207074..47209665,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPT2-3	chr16:47187543-47187707	NONHSAT142282
2	lnc-GPT2-3	chr16:47191466-47191515	NONHSAT142282
3	lnc-GPT2-3	chr16:47195460-47195501	NONHSAT142282
4	lnc-GPT2-3	chr16:47177999-47178405	NONHSAT142282
5	lnc-GPT2-3	chr16:47216667-47217006	NONHSAT142282
6	lnc-GPT2-11	chr16:47213203-47213513	l_1316_chr16:47211651-47213507_testes
7	lnc-GPT2-11	chr16:47211652-47211793	l_1316_chr16:47211651-47213507_testes
8	lnc-GPT2-10	chr16:47185464-47185705	NONHSAT142284

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ITFG1	hsa-miR-23b-3p	chr16:47189629-47189649

Variant related genes	Relation type
NETO2	TF binding region
RPL23AP72	TF binding region
ENSG00000260281	TF binding region
NETO2	CpG island
RPL23AP72	CpG island
ENSG00000260281	CpG island
ENSG00000129636	chromatin interactions
ENSG00000239840	chromatin interactions
ENSG00000069345	chromatin interactions
ENSG00000260281	chromatin interactions
ENSG00000230679	chromatin interactions
ENSG00000171208	chromatin interactions
ENSG00000121270	chromatin interactions
ENSG00000102893	chromatin interactions
ENSG00000261173	chromatin interactions
ENSG00000074800	chromatin interactions

Extended variants
information (count: 1419 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1419 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139415485	chr16:47177342-47177343	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs540559113	chr16:47177396-47177397	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs182520593	chr16:47177402-47177403	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs532367532	chr16:47177423-47177424	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs550782687	chr16:47177477-47177478	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs562589845	chr16:47177524-47177525	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs529788697	chr16:47177664-47177665	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs548213305	chr16:47177691-47177692	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs566424353	chr16:47177801-47177802	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs533545744	chr16:47177837-47177838	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs547299759	chr16:47178024-47178025	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs187168252	chr16:47178246-47178247	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs538862605	chr16:47178321-47178322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs557103444	chr16:47178328-47178329	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs569010877	chr16:47178353-47178354	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs536303758	chr16:47178369-47178370	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
17	rs554631684	chr16:47178410-47178411	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs573233895	chr16:47178419-47178420	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs199822427	chr16:47178423-47178424	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs558849424	chr16:47178468-47178469	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs577031728	chr16:47178526-47178527	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs190976779	chr16:47178592-47178593	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs145669352	chr16:47178596-47178597	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs182690694	chr16:47178618-47178619	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs145380518	chr16:47178638-47178639	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs542478222	chr16:47178677-47178678	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs149216806	chr16:47178691-47178692	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs142427218	chr16:47178732-47178733	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs563730980	chr16:47178740-47178741	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs531091087	chr16:47178858-47178859	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs571929534	chr16:47178886-47178887	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs556495669	chr16:47178906-47178907	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs554988769	chr16:47178917-47178918	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs188954409	chr16:47178930-47178931	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs550769576	chr16:47178947-47178948	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs552484368	chr16:47178958-47178959	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs151297013	chr16:47178980-47178981	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs536442244	chr16:47179015-47179016	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs7184206	chr16:47179026-47179027	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566839572	chr16:47179100-47179101	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs28513204	chr16:47179167-47179168	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs77938887	chr16:47179178-47179179	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs73536884	chr16:47179199-47179200	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140627283	chr16:47179204-47179205	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs77104209	chr16:47179237-47179238	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs114683546	chr16:47179272-47179273	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs111920166	chr16:47179308-47179309	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113689676	chr16:47179323-47179324	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373583050	chr16:47179353-47179354	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs530870707	chr16:47179382-47179383	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47174200-47178400	Active TSS	GM12878-XiMat	blood
2	chr16:47174600-47178800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:47174600-47178800	Active TSS	Fetal Brain Female	brain
4	chr16:47174800-47178400	Active TSS	Brain Germinal Matrix	brain
5	chr16:47175000-47178200	Active TSS	HMEC	breast
6	chr16:47175000-47178800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr16:47175200-47178600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:47175400-47178400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:47175400-47178400	Active TSS	Brain Anterior Caudate	brain
10	chr16:47175400-47178400	Active TSS	NH-A	brain
11	chr16:47175400-47178600	Active TSS	Muscle Satellite Cultured Cells	--
12	chr16:47175400-47178600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr16:47175400-47179000	Active TSS	A549	lung
14	chr16:47175600-47177800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr16:47175600-47178200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:47175600-47178200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:47175600-47178200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr16:47175600-47178400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:47175600-47178400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:47175600-47178400	Active TSS	Brain Cingulate Gyrus	brain
21	chr16:47175600-47178400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:47175600-47178400	Active TSS	Brain Substantia Nigra	brain
23	chr16:47175600-47178400	Active TSS	Ovary	ovary
24	chr16:47175600-47178600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr16:47175600-47178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:47175600-47178600	Active TSS	NHEK	skin
27	chr16:47175600-47178600	Active TSS	NHLF	lung
28	chr16:47175600-47178600	Active TSS	Osteobl	bone
29	chr16:47175600-47178800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:47175600-47178800	Active TSS	Brain Hippocampus Middle	brain
31	chr16:47175600-47179000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:47175600-47179000	Active TSS	Brain Angular Gyrus	brain
33	chr16:47175800-47177400	Active TSS	Right Ventricle	heart
34	chr16:47175800-47177600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:47175800-47177600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr16:47175800-47177600	Active TSS	Right Atrium	heart
37	chr16:47175800-47177800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:47175800-47178400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr16:47175800-47178400	Active TSS	Aorta	Aorta
40	chr16:47175800-47178400	Active TSS	Left Ventricle	heart
41	chr16:47175800-47178400	Active TSS	NHDF-Ad	bronchial
42	chr16:47175800-47178600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:47175800-47178600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:47175800-47178800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:47175800-47178800	Active TSS	HSMMtube	muscle
46	chr16:47175800-47179000	Active TSS	Hela-S3	cervix
47	chr16:47176000-47177400	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr16:47176000-47177400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
49	chr16:47176000-47178200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr16:47176000-47178800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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