Variant report

Variant	esv3500923
Chromosome Location	chr16:47176301-47179099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:952)
CpG islands
(count:733)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:952 , 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	chr16:47176783-47176815	K562	blood:	n/a	n/a
2	ARID3A	chr16:47177441-47177480	K562	blood:	n/a	n/a
3	ARID3A	chr16:47178303-47178477	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:47175635-47176566	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:47177086-47177176	HepG2	liver:	n/a	n/a
6	ATF2	chr16:47176142-47176695	GM12878	blood:	n/a	n/a
7	ATF2	chr16:47176226-47176738	GM12878	blood:	n/a	n/a
8	ATF3	chr16:47177260-47177528	K562	blood:	n/a	n/a
9	BACH1	chr16:47178178-47178180	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr16:47176731-47177908	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr16:47176365-47176663	GM12878	blood:	n/a	n/a
12	BATF	chr16:47176399-47176669	GM12878	blood:	n/a	n/a
13	BCL11A	chr16:47176367-47176707	GM12878	blood:	n/a	n/a
14	BCLAF1	chr16:47176319-47176951	GM12878	blood:	n/a	n/a
15	BCLAF1	chr16:47177271-47177669	GM12878	blood:	n/a	chr16:47177425-47177438 chr16:47177593-47177602 chr16:47177563-47177572
16	BCLAF1	chr16:47177145-47177707	GM12878	blood:	n/a	chr16:47177425-47177438 chr16:47177593-47177602 chr16:47177563-47177572
17	BHLHE40	chr16:47175534-47176602	GM12878	blood:	n/a	n/a
18	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
19	BHLHE40	chr16:47177335-47177732	HepG2	liver:	n/a	chr16:47177449-47177465
20	BHLHE40	chr16:47177272-47178380	K562	blood:	n/a	chr16:47178152-47178168 chr16:47177449-47177465 chr16:47178004-47178020 chr16:47178144-47178160
21	BRCA1	chr16:47178549-47178596	HepG2	liver:	n/a	n/a
22	BRCA1	chr16:47176374-47176777	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr16:47178424-47178462	GM12878	blood:	n/a	n/a
24	CBX3	chr16:47178273-47178641	K562	blood:	n/a	n/a
25	CBX3	chr16:47177298-47177690	K562	blood:	n/a	n/a
26	CCNT2	chr16:47176712-47178516	K562	blood:	n/a	chr16:47177471-47177480
27	CEBPB	chr16:47175607-47176698	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr16:47178282-47178496	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr16:47176336-47176680	IMR90	lung:	n/a	n/a
30	CEBPB	chr16:47175718-47176663	K562	blood:	n/a	n/a
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	chr16:47176954-47177116	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr16:47177538-47177738	HepG2	liver:	n/a	n/a
35	CHD2	chr16:47177362-47178613	Hela-S3	cervix:	n/a	chr16:47178587-47178597 chr16:47177861-47177871
36	CHD2	chr16:47178275-47178589	K562	blood:	n/a	n/a
37	CHD2	chr16:47177667-47177736	K562	blood:	n/a	n/a
38	CHD2	chr16:47178435-47178563	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr16:47178308-47178579	GM12878	blood:	n/a	n/a
40	CHD2	chr16:47177087-47177102	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr16:47177212-47177641	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr16:47176254-47176769	GM12878	blood:	n/a	n/a
43	CREB1	chr16:47177138-47178454	A549	lung:	n/a	n/a
44	CREB1	chr16:47176198-47176806	GM12878	blood:	n/a	n/a
45	CREB1	chr16:47176829-47177782	HepG2	liver:	n/a	n/a
46	CREB1	chr16:47177189-47177703	K562	blood:	n/a	n/a
47	CTBP2	chr16:47178097-47178658	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTBP2	chr16:47176716-47177734	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr16:47177319-47177597	Gliobla	brain:	n/a	chr16:47177448-47177461 chr16:47177445-47177463
50	CTCF	chr16:47177916-47177943	GM13977	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:47178250-47178300	ovcar-3	ovarian:	n/a
2	chr16:47178250-47178300	ovcar-3	ovarian:	n/a
3	chr16:47178067-47178117	GM12891	blood:	n/a
4	chr16:47178250-47178300	GM19239	blood:	n/a
5	chr16:47177175-47177225	PrEC	prostate:	n/a
6	chr16:47178359-47178409	AG04449	skin:	fetal
7	chr16:47178078-47178128	Hepatocyte	liver:	n/a
8	chr16:47178070-47178120	GM06990	blood:	n/a
9	chr16:47178359-47178409	GM06990	blood:	n/a
10	chr16:47178067-47178117	NB4	blood:	n/a
11	chr16:47178359-47178409	SK-N-SH	brain:	n/a
12	chr16:47178067-47178117	T-47D	breast:	n/a
13	chr16:47178067-47178117	PFSK-1	brain:	n/a
14	chr16:47177175-47177225	GM12891	blood:	n/a
15	chr16:47178208-47178258	NH-A	brain:	n/a
16	chr16:47178067-47178117	AG10803	skin:	n/a
17	chr16:47178250-47178300	GM06990	blood:	n/a
18	chr16:47178208-47178258	HRE	kidney:	n/a
19	chr16:47177175-47177225	SAEC	small airway:	n/a
20	chr16:47178723-47178773	Caco-2	colon:	n/a
21	chr16:47178357-47178407	HL-60	blood:	n/a
22	chr16:47178067-47178117	A549	lung:	n/a
23	chr16:47178359-47178409	BJ	skin:	n/a
24	chr16:47178723-47178773	HepG2	liver:	n/a
25	chr16:47178067-47178117	HL-60	blood:	n/a
26	chr16:47178357-47178407	HRE	kidney:	n/a
27	chr16:47177480-47177530	LNCaP	prostate:	n/a
28	chr16:47178070-47178120	HRPEpiC	eye:	n/a
29	chr16:47178357-47178407	HNPCEpiC	eye:	n/a
30	chr16:47178357-47178407	Jurkat	blood:	n/a
31	chr16:47178359-47178409	GM12878	blood:	n/a
32	chr16:47177480-47177530	PANC-1	pancreas:	n/a
33	chr16:47178723-47178773	NT2-D1	testis:	n/a
34	chr16:47178067-47178117	ovcar-3	ovarian:	n/a
35	chr16:47176710-47176760	HEK293	kidney:	embryo
36	chr16:47177480-47177530	Jurkat	blood:	n/a
37	chr16:47178723-47178773	HAEpiC	amniotic membrane:	n/a
38	chr16:47177175-47177225	MCF-7	breast:	n/a
39	chr16:47178357-47178407	ovcar-3	ovarian:	n/a
40	chr16:47178208-47178258	AG09309	skin:	n/a
41	chr16:47178359-47178409	HPAEpiC	pulmonary alveolar:	n/a
42	chr16:47177603-47177653	AG09319	gingival:	n/a
43	chr16:47177175-47177225	GM19239	blood:	n/a
44	chr16:47178250-47178300	IMR90	lung:	fetal
45	chr16:47178357-47178407	NT2-D1	testis:	n/a
46	chr16:47178250-47178300	HIPEpiC	eye:	n/a
47	chr16:47178208-47178258	SK-N-SH	brain:	n/a
48	chr16:47178078-47178128	CMK	blood:	n/a
49	chr16:47178067-47178117	GM06990	blood:	n/a
50	chr16:47176710-47176760	NT2-D1	testis:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:47175994..47177897-chr16:48278487..48280949,2	MCF-7	breast:
2	chr16:47006185..47008137-chr16:47174529..47176605,2	K562	blood:
3	chr16:47178385..47180317-chr16:47705518..47707688,2	K562	blood:
4	chr16:47174837..47177337-chr16:47189035..47191316,2	K562	blood:
5	chr16:47175524..47179141-chr16:47493736..47496005,3	MCF-7	breast:
6	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
7	chr16:47177383..47180950-chr16:47184423..47188537,5	K562	blood:
8	chr1:8938804..8939443-chr16:47177378..47177897,2	Hela-S3	cervix:
9	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:
10	chr16:47176885..47177462-chr16:47479483..47480444,2	K562	blood:
11	chr16:47178986..47180526-chr16:47182698..47184295,2	K562	blood:
12	chr16:47155510..47158192-chr16:47174850..47176528,2	K562	blood:
13	chr16:47174790..47177797-chr16:47493413..47496816,5	K562	blood:
14	chr16:47175296..47177509-chr16:48190040..48191217,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPT2-3	chr16:47177999-47178405	NONHSAT142282

No data

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

Extended variants
information (count: 67 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578036003	chr16:47176301-47176302	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs545443119	chr16:47176315-47176316	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs114770846	chr16:47176324-47176325	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs575263753	chr16:47176358-47176359	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs36001174	chr16:47176375-47176376	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs542594778	chr16:47176425-47176426	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs185907891	chr16:47176458-47176459	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs528357726	chr16:47176487-47176488	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs150559880	chr16:47176513-47176514	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs565048324	chr16:47176555-47176556	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs532196566	chr16:47176593-47176594	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs140435371	chr16:47176620-47176621	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs568954882	chr16:47176631-47176632	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs74451893	chr16:47176634-47176635	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs548175414	chr16:47176882-47176883	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs113039329	chr16:47176883-47176884	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs567983547	chr16:47176928-47176929	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs372541545	chr16:47176937-47176938	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs189924023	chr16:47176948-47176949	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs535278082	chr16:47177066-47177067	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs553301395	chr16:47177125-47177126	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs578154248	chr16:47177146-47177147	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs538834783	chr16:47177180-47177181	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs547522528	chr16:47177193-47177194	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs557066639	chr16:47177224-47177225	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 CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs575299039	chr16:47177227-47177228	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
27	rs542633192	chr16:47177259-47177260	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
28	rs560900434	chr16:47177322-47177323	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

Variant related diseases (count:63)

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

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr16:47175400-47177200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:47175400-47177200	Active TSS	Fetal Brain Male	brain
10	chr16:47175400-47178400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:47175400-47178400	Active TSS	Brain Anterior Caudate	brain
12	chr16:47175400-47178400	Active TSS	NH-A	brain
13	chr16:47175400-47178600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr16:47175400-47178600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr16:47175400-47179000	Active TSS	A549	lung
16	chr16:47175600-47176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:47175600-47176400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:47175600-47176600	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr16:47175600-47176800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr16:47175600-47176800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:47175600-47177200	Active TSS	Colonic Mucosa	Colon
22	chr16:47175600-47177200	Bivalent/Poised TSS	Fetal Lung	lung
23	chr16:47175600-47177800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr16:47175600-47178200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:47175600-47178200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:47175600-47178200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr16:47175600-47178400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:47175600-47178400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:47175600-47178400	Active TSS	Brain Cingulate Gyrus	brain
30	chr16:47175600-47178400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:47175600-47178400	Active TSS	Brain Substantia Nigra	brain
32	chr16:47175600-47178400	Active TSS	Ovary	ovary
33	chr16:47175600-47178600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:47175600-47178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:47175600-47178600	Active TSS	NHEK	skin
36	chr16:47175600-47178600	Active TSS	NHLF	lung
37	chr16:47175600-47178600	Active TSS	Osteobl	bone
38	chr16:47175600-47178800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:47175600-47178800	Active TSS	Brain Hippocampus Middle	brain
40	chr16:47175600-47179000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:47175600-47179000	Active TSS	Brain Angular Gyrus	brain
42	chr16:47175800-47176400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr16:47175800-47176400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:47175800-47176400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr16:47175800-47176600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr16:47175800-47176600	Flanking Active TSS	Liver	Liver
47	chr16:47175800-47176600	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
48	chr16:47175800-47176600	Active TSS	Placenta	Placenta
49	chr16:47175800-47176600	Active TSS	Fetal Stomach	stomach
50	chr16:47175800-47176800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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