Variant report

Variant	esv3394603
Chromosome Location	chr16:47175976-47179024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1143)
CpG islands
(count:793)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1143 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

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	chr16:47175602-47176202	K562	blood:	n/a	n/a
3	ARID3A	chr16:47178303-47178477	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:47177441-47177480	K562	blood:	n/a	n/a
5	ARID3A	chr16:47177086-47177176	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:47175635-47176566	HepG2	liver:	n/a	n/a
7	ATF1	chr16:47175658-47176054	K562	blood:	n/a	n/a
8	ATF2	chr16:47176226-47176738	GM12878	blood:	n/a	n/a
9	ATF2	chr16:47175571-47176087	GM12878	blood:	n/a	n/a
10	ATF2	chr16:47175531-47176062	GM12878	blood:	n/a	n/a
11	ATF2	chr16:47176142-47176695	GM12878	blood:	n/a	n/a
12	ATF3	chr16:47177260-47177528	K562	blood:	n/a	n/a
13	BACH1	chr16:47176731-47177908	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr16:47178178-47178180	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr16:47175631-47176087	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr16:47176399-47176669	GM12878	blood:	n/a	n/a
17	BATF	chr16:47176365-47176663	GM12878	blood:	n/a	n/a
18	BATF	chr16:47175661-47175976	GM12878	blood:	n/a	n/a
19	BCL11A	chr16:47176367-47176707	GM12878	blood:	n/a	n/a
20	BCLAF1	chr16:47176319-47176951	GM12878	blood:	n/a	n/a
21	BCLAF1	chr16:47177271-47177669	GM12878	blood:	n/a	chr16:47177425-47177438 chr16:47177593-47177602 chr16:47177563-47177572
22	BCLAF1	chr16:47177145-47177707	GM12878	blood:	n/a	chr16:47177425-47177438 chr16:47177593-47177602 chr16:47177563-47177572
23	BCLAF1	chr16:47175544-47176047	GM12878	blood:	n/a	n/a
24	BCLAF1	chr16:47175480-47176190	GM12878	blood:	n/a	n/a
25	BHLHE40	chr16:47175636-47176200	K562	blood:	n/a	n/a
26	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
27	BHLHE40	chr16:47177335-47177732	HepG2	liver:	n/a	chr16:47177449-47177465
28	BHLHE40	chr16:47175534-47176602	GM12878	blood:	n/a	n/a
29	BHLHE40	chr16:47177272-47178380	K562	blood:	n/a	chr16:47178152-47178168 chr16:47177449-47177465 chr16:47178004-47178020 chr16:47178144-47178160
30	BRCA1	chr16:47175537-47175997	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr16:47176374-47176777	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr16:47178424-47178462	GM12878	blood:	n/a	n/a
33	BRCA1	chr16:47178549-47178596	HepG2	liver:	n/a	n/a
34	CBX3	chr16:47178273-47178641	K562	blood:	n/a	n/a
35	CBX3	chr16:47177298-47177690	K562	blood:	n/a	n/a
36	CCNT2	chr16:47176712-47178516	K562	blood:	n/a	chr16:47177471-47177480
37	CEBPB	chr16:47175718-47176663	K562	blood:	n/a	n/a
38	CEBPB	chr16:47178282-47178496	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr16:47176336-47176680	IMR90	lung:	n/a	n/a
40	CEBPB	chr16:47175607-47176698	Hela-S3	cervix:	n/a	n/a
41	CHD1	chr16:47175582-47177806	GM12878	blood:	n/a	n/a
42	CHD1	chr16:47177306-47177565	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr16:47176954-47177116	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr16:47177667-47177736	K562	blood:	n/a	n/a
45	CHD2	chr16:47177538-47177738	HepG2	liver:	n/a	n/a
46	CHD2	chr16:47178435-47178563	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr16:47175562-47176108	GM12878	blood:	n/a	n/a
48	CHD2	chr16:47177087-47177102	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr16:47177362-47178613	Hela-S3	cervix:	n/a	chr16:47178587-47178597 chr16:47177861-47177871
50	CHD2	chr16:47175638-47175993	Hela-S3	cervix:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:47178078-47178128	HL-60	blood:	n/a
2	chr16:47178067-47178117	HCM	heart:	n/a
3	chr16:47178359-47178409	RPTEC	kidney:	n/a
4	chr16:47178250-47178300	HCM	heart:	n/a
5	chr16:47177480-47177530	HEEpiC	esophagus:	n/a
6	chr16:47175936-47175986	AG09309	skin:	n/a
7	chr16:47178070-47178120	MCF-7	breast:	n/a
8	chr16:47178078-47178128	NHDF-neo	bronchial:	n/a
9	chr16:47178357-47178407	HNPCEpiC	eye:	n/a
10	chr16:47178067-47178117	HMEC	breast:	n/a
11	chr16:47178357-47178407	T-47D	breast:	n/a
12	chr16:47178208-47178258	MCF10A-Er-Src	breast:	n/a
13	chr16:47176710-47176760	HUVEC	blood vessel:	n/a
14	chr16:47178070-47178120	PrEC	prostate:	n/a
15	chr16:47177480-47177530	Hepatocyte	liver:	n/a
16	chr16:47177480-47177530	NHBE	bronchial:	n/a
17	chr16:47178359-47178409	HCPEpiC	choroid plexus:	n/a
18	chr16:47178723-47178773	HEK293	kidney:	embryo
19	chr16:47177603-47177653	SK-N-SH_RA	brain:	n/a
20	chr16:47178067-47178117	NB4	blood:	n/a
21	chr16:47178070-47178120	K562	blood:	n/a
22	chr16:47178357-47178407	HRCEpiC	kidney:	n/a
23	chr16:47178070-47178120	BE2_C	brain:	n/a
24	chr16:47176710-47176760	HAEpiC	amniotic membrane:	n/a
25	chr16:47178070-47178120	HRPEpiC	eye:	n/a
26	chr16:47178078-47178128	Hepatocyte	liver:	n/a
27	chr16:47177480-47177530	U87	brain:	n/a
28	chr16:47178723-47178773	ProgFib	skin:	n/a
29	chr16:47178357-47178407	AoSMC	blood vessel:	n/a
30	chr16:47177480-47177530	NT2-D1	testis:	n/a
31	chr16:47178208-47178258	ProgFib	skin:	n/a
32	chr16:47178067-47178117	HPAEpiC	pulmonary alveolar:	n/a
33	chr16:47178067-47178117	K562	blood:	n/a
34	chr16:47177480-47177530	BE2_C	brain:	n/a
35	chr16:47178723-47178773	PANC-1	pancreas:	n/a
36	chr16:47178208-47178258	NHBE	bronchial:	n/a
37	chr16:47176710-47176760	AG09309	skin:	n/a
38	chr16:47178070-47178120	NHBE	bronchial:	n/a
39	chr16:47175936-47175986	AG09319	gingival:	n/a
40	chr16:47177603-47177653	T-47D	breast:	n/a
41	chr16:47177480-47177530	HCT-116	colon:	n/a
42	chr16:47177175-47177225	HEEpiC	esophagus:	n/a
43	chr16:47176710-47176760	T-47D	breast:	n/a
44	chr16:47178357-47178407	K562	blood:	n/a
45	chr16:47178723-47178773	SK-N-MC	brain:	n/a
46	chr16:47177480-47177530	AG04450	lung:	fetal
47	chr16:47176710-47176760	HCF	heart:	n/a
48	chr16:47175936-47175986	SK-N-SH_RA	brain:	n/a
49	chr16:47177175-47177225	AG10803	skin:	n/a
50	chr16:47175936-47175986	HL-60	blood:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:47176885..47177462-chr16:47479483..47480444,2	K562	blood:
2	chr16:47175296..47177509-chr16:48190040..48191217,7	MCF-7	breast:
3	chr16:47071376..47072506-chr16:47175620..47176296,3	K562	blood:
4	chr16:47174837..47177337-chr16:47189035..47191316,2	K562	blood:
5	chr16:47155510..47158192-chr16:47174850..47176528,2	K562	blood:
6	chr16:47175994..47177897-chr16:48278487..48280949,2	MCF-7	breast:
7	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
8	chr16:47175627..47176240-chr16:48199483..48200032,2	MCF-7	breast:
9	chr16:47178986..47180526-chr16:47182698..47184295,2	K562	blood:
10	chr1:8938804..8939443-chr16:47177378..47177897,2	Hela-S3	cervix:
11	chr16:47174790..47177797-chr16:47493413..47496816,5	K562	blood:
12	chr16:47175524..47179141-chr16:47493736..47496005,3	MCF-7	breast:
13	chr16:47175322..47176299-chr16:48190360..48191104,3	K562	blood:
14	chr16:47006185..47008137-chr16:47174529..47176605,2	K562	blood:
15	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:
16	chr16:47177383..47180950-chr16:47184423..47188537,5	K562	blood:
17	chr16:47178385..47180317-chr16:47705518..47707688,2	K562	blood:

(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
ENSG00000239840	chromatin interactions
ENSG00000129636	chromatin interactions
ENSG00000069345	chromatin interactions
ENSG00000121270	chromatin interactions
ENSG00000102893	chromatin interactions
ENSG00000230679	chromatin interactions
ENSG00000261173	chromatin interactions
ENSG00000171208	chromatin interactions
ENSG00000074800	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 63 )

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	rs187277856	chr16:47176051-47176052	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs538677953	chr16:47176142-47176143	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs148458171	chr16:47176160-47176161	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs568908263	chr16:47176172-47176173	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs372168183	chr16:47176211-47176212	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	rs192034480	chr16:47176223-47176224	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
7	rs181418220	chr16:47176224-47176225	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
8	rs141711467	chr16:47176250-47176251	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
9	rs369114656	chr16:47176251-47176252	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
10	rs553504969	chr16:47176259-47176260	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr16:47175400-47176000	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr16:47175400-47176200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:47175400-47177200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:47175400-47177200	Active TSS	Fetal Brain Male	brain
12	chr16:47175400-47178400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:47175400-47178400	Active TSS	Brain Anterior Caudate	brain
14	chr16:47175400-47178400	Active TSS	NH-A	brain
15	chr16:47175400-47178600	Active TSS	Muscle Satellite Cultured Cells	--
16	chr16:47175400-47178600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr16:47175400-47179000	Active TSS	A549	lung
18	chr16:47175600-47176000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:47175600-47176000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr16:47175600-47176000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr16:47175600-47176000	Active TSS	Fetal Heart	heart
22	chr16:47175600-47176000	Active TSS	HSMM	muscle
23	chr16:47175600-47176000	Flanking Active TSS	HUVEC	blood vessel
24	chr16:47175600-47176200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr16:47175600-47176200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr16:47175600-47176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr16:47175600-47176400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:47175600-47176600	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr16:47175600-47176800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr16:47175600-47176800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:47175600-47177200	Active TSS	Colonic Mucosa	Colon
32	chr16:47175600-47177200	Bivalent/Poised TSS	Fetal Lung	lung
33	chr16:47175600-47177800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr16:47175600-47178200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:47175600-47178200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:47175600-47178200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr16:47175600-47178400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:47175600-47178400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:47175600-47178400	Active TSS	Brain Cingulate Gyrus	brain
40	chr16:47175600-47178400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:47175600-47178400	Active TSS	Brain Substantia Nigra	brain
42	chr16:47175600-47178400	Active TSS	Ovary	ovary
43	chr16:47175600-47178600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr16:47175600-47178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:47175600-47178600	Active TSS	NHEK	skin
46	chr16:47175600-47178600	Active TSS	NHLF	lung
47	chr16:47175600-47178600	Active TSS	Osteobl	bone
48	chr16:47175600-47178800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:47175600-47178800	Active TSS	Brain Hippocampus Middle	brain
50	chr16:47175600-47179000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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