Variant report

Variant	esv3521659
Chromosome Location	chr16:48417776-48420599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:636)
CpG islands
(count:305)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:48417831-48418153	K562	blood:	n/a	n/a
2	ARID3A	chr16:48419130-48419530	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:48419894-48420137	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:48417781-48418469	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:48419367-48419551	K562	blood:	n/a	n/a
6	ATF2	chr16:48417986-48418364	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr16:48419311-48419585	HepG2	liver:	n/a	chr16:48419332-48419341 chr16:48419408-48419417
8	BCL3	chr16:48419341-48419762	A549	lung:	n/a	chr16:48419710-48419723 chr16:48419361-48419370 chr16:48419359-48419372 chr16:48419712-48419725 chr16:48419715-48419724 chr16:48419712-48419721 chr16:48419623-48419636
9	BCL3	chr16:48419028-48419378	GM12878	blood:	n/a	chr16:48419327-48419340 chr16:48419361-48419370 chr16:48419359-48419372
10	BCLAF1	chr16:48419242-48419765	GM12878	blood:	n/a	chr16:48419710-48419723 chr16:48419327-48419340 chr16:48419361-48419370 chr16:48419359-48419372 chr16:48419712-48419725 chr16:48419715-48419724 chr16:48419712-48419721 chr16:48419623-48419636
11	BHLHE40	chr16:48418075-48419797	GM12878	blood:	n/a	chr16:48419664-48419680 chr16:48419620-48419636 chr16:48418657-48418673
12	BHLHE40	chr16:48417811-48420020	K562	blood:	n/a	chr16:48419664-48419680 chr16:48419620-48419636 chr16:48418657-48418673
13	BHLHE40	chr16:48418641-48418772	A549	lung:	n/a	chr16:48418657-48418673
14	BHLHE40	chr16:48417882-48419832	HepG2	liver:	n/a	chr16:48419664-48419680 chr16:48419620-48419636 chr16:48418657-48418673
15	BRCA1	chr16:48420000-48420095	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr16:48419858-48419902	HepG2	liver:	n/a	n/a
17	BRCA1	chr16:48419426-48419579	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr16:48419498-48419895	Hela-S3	cervix:	n/a	n/a
19	CCNT2	chr16:48418457-48419867	K562	blood:	n/a	chr16:48418561-48418570 chr16:48419837-48419846 chr16:48418924-48418933 chr16:48419408-48419417 chr16:48418929-48418938
20	CEBPB	chr16:48417601-48417897	IMR90	lung:	n/a	n/a
21	CEBPB	chr16:48419310-48419610	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr16:48417577-48418047	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr16:48418494-48418583	Hela-S3	cervix:	n/a	n/a
24	CEBPD	chr16:48419182-48419804	HepG2	liver:	n/a	n/a
25	CEBPD	chr16:48418771-48419821	HepG2	liver:	n/a	n/a
26	CEBPD	chr16:48418443-48418750	HepG2	liver:	n/a	n/a
27	CHD1	chr16:48418999-48419289	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr16:48418594-48418677	GM12878	blood:	n/a	n/a
29	CHD1	chr16:48418054-48418654	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr16:48418974-48419965	GM12878	blood:	n/a	chr16:48419623-48419633 chr16:48418977-48418984
31	CHD1	chr16:48419944-48420114	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr16:48419431-48419915	HepG2	liver:	n/a	chr16:48419623-48419633
33	CHD2	chr16:48418969-48419747	K562	blood:	n/a	chr16:48419623-48419633 chr16:48418977-48418984
34	CHD2	chr16:48419032-48419232	GM12878	blood:	n/a	n/a
35	CHD2	chr16:48418074-48418559	K562	blood:	n/a	n/a
36	CHD2	chr16:48418956-48420102	Hela-S3	cervix:	n/a	chr16:48419623-48419633 chr16:48418977-48418984
37	CHD2	chr16:48419447-48419985	H1-hESC	embryonic stem cell:	n/a	chr16:48419623-48419633
38	CHD2	chr16:48417705-48418715	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr16:48418430-48418627	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr16:48418838-48419718	A549	lung:	n/a	n/a
41	CTBP2	chr16:48419480-48419969	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr16:48419460-48419610	GM12868	blood:	n/a	n/a
43	CTCF	chr16:48418450-48418455	K562	blood:	n/a	n/a
44	CTCF	chr16:48419096-48419630	GM12878	blood:	n/a	n/a
45	CTCF	chr16:48419338-48419503	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr16:48419460-48419610	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr16:48419495-48419548	GM19239	blood:	n/a	n/a
48	CTCF	chr16:48419620-48419770	HEK293	kidney:	n/a	n/a
49	CTCF	chr16:48419520-48419670	GM12865	blood:	n/a	n/a
50	CTCF	chr16:48419159-48419205	MCF-7	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48419541-48419591	ovcar-3	ovarian:	n/a
2	chr16:48419522-48419572	T-47D	breast:	n/a
3	chr16:48419541-48419591	ProgFib	skin:	n/a
4	chr16:48418433-48418483	ProgFib	skin:	n/a
5	chr16:48419541-48419591	HCPEpiC	choroid plexus:	n/a
6	chr16:48419522-48419572	SK-N-SH	brain:	n/a
7	chr16:48419537-48419587	HIPEpiC	eye:	n/a
8	chr16:48419537-48419587	ProgFib	skin:	n/a
9	chr16:48419522-48419572	HPAEpiC	pulmonary alveolar:	n/a
10	chr16:48418433-48418483	SAEC	small airway:	n/a
11	chr16:48418433-48418483	LNCaP	prostate:	n/a
12	chr16:48419541-48419591	HCT-116	colon:	n/a
13	chr16:48418433-48418483	HL-60	blood:	n/a
14	chr16:48419522-48419572	BJ	skin:	n/a
15	chr16:48419522-48419572	SKMC	muscle:	n/a
16	chr16:48419812-48419862	RPTEC	kidney:	n/a
17	chr16:48419522-48419572	GM19239	blood:	n/a
18	chr16:48419537-48419587	GM19239	blood:	n/a
19	chr16:48419537-48419587	NHBE	bronchial:	n/a
20	chr16:48418433-48418483	HepG2	liver:	n/a
21	chr16:48419541-48419591	LNCaP	prostate:	n/a
22	chr16:48418433-48418483	AG09319	gingival:	n/a
23	chr16:48418433-48418483	Jurkat	blood:	n/a
24	chr16:48419541-48419591	A549	lung:	n/a
25	chr16:48419537-48419587	HL-60	blood:	n/a
26	chr16:48418433-48418483	SK-N-SH	brain:	n/a
27	chr16:48419537-48419587	PrEC	prostate:	n/a
28	chr16:48418433-48418483	GM19239	blood:	n/a
29	chr16:48419537-48419587	HEK293	kidney:	embryo
30	chr16:48418433-48418483	AG04450	lung:	fetal
31	chr16:48419522-48419572	ECC-1	luminal epithelium:	n/a
32	chr16:48419812-48419862	AG04449	skin:	fetal
33	chr16:48419522-48419572	GM12891	blood:	n/a
34	chr16:48419537-48419587	T-47D	breast:	n/a
35	chr16:48418433-48418483	H1-hESC	embryonic stem cell:	embryo
36	chr16:48419541-48419591	PFSK-1	brain:	n/a
37	chr16:48419541-48419591	MCF10A-Er-Src	breast:	n/a
38	chr16:48419522-48419572	GM12892	blood:	n/a
39	chr16:48419522-48419572	PrEC	prostate:	n/a
40	chr16:48419537-48419587	HEEpiC	esophagus:	n/a
41	chr16:48419812-48419862	AoSMC	blood vessel:	n/a
42	chr16:48419522-48419572	HRPEpiC	eye:	n/a
43	chr16:48418433-48418483	ovcar-3	ovarian:	n/a
44	chr16:48419812-48419862	SK-N-SH_RA	brain:	n/a
45	chr16:48419812-48419862	GM12878	blood:	n/a
46	chr16:48419541-48419591	HAEpiC	amniotic membrane:	n/a
47	chr16:48418433-48418483	PFSK-1	brain:	n/a
48	chr16:48419812-48419862	HepG2	liver:	n/a
49	chr16:48419537-48419587	AG10803	skin:	n/a
50	chr16:48418433-48418483	SK-N-SH_RA	brain:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48419382..48420884-chr16:48422551..48425300,2	MCF-7	breast:
2	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
3	chr1:153508413..153509221-chr16:48418944..48419933,2	Hela-S3	cervix:
4	chr16:48277094..48279506-chr16:48417848..48419466,2	K562	blood:
5	chr15:85291369..85292229-chr16:48418740..48419424,2	Hela-S3	cervix:
6	chr12:57039442..57040047-chr16:48419364..48420064,2	Hela-S3	cervix:
7	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
8	chr16:48416397..48419006-chr16:48635531..48637181,2	K562	blood:
9	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:
10	chr16:2013351..2015357-chr16:48417776..48419360,2	MCF-7	breast:
11	chr16:48380431..48382791-chr16:48417861..48420626,2	K562	blood:
12	chr10:35284036..35284536-chr16:48418817..48419320,2	NB4	blood:
13	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:
14	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
15	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
16	chr16:48418761..48419469-chr22:42228810..42229760,2	Hela-S3	cervix:
17	chr16:48419370..48419971-chr19:17515260..17516132,2	Hela-S3	cervix:
18	chr16:48418738..48419529-chr16:89626613..89627546,2	Hela-S3	cervix:
19	chr16:48367808..48369426-chr16:48417936..48419640,2	MCF-7	breast:
20	chr11:6502371..6503037-chr16:48419377..48420020,2	NB4	blood:
21	chr16:48392029..48394915-chr16:48416777..48418892,2	MCF-7	breast:
22	chr16:48419190..48419723-chr20:30194517..30195068,2	HCT-116	colon:
23	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
24	chr16:48399845..48400801-chr16:48418367..48419048,2	Hela-S3	cervix:
25	chr16:48419410..48421944-chr16:48545496..48547470,2	MCF-7	breast:
26	chr12:7261155..7261904-chr16:48418914..48419874,2	Hela-S3	cervix:
27	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
28	chr1:212208566..212209259-chr16:48419035..48419960,2	Hela-S3	cervix:
29	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
30	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:

No data

Variant related genes	Relation type
SIAH1	TF binding region
SIAH1	CpG island
ENSG00000197956	chromatin interactions
ENSG00000132254	chromatin interactions
ENSG00000121270	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000196470	chromatin interactions
ENSG00000132286	chromatin interactions
ENSG00000130303	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000143493	chromatin interactions
ENSG00000255513	chromatin interactions
ENSG00000265264	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000205885	chromatin interactions
ENSG00000102910	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000102921	chromatin interactions
ENSG00000166716	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000198911	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000139178	chromatin interactions
ENSG00000240793	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 69 )

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	rs200107002	chr16:48417787-48417788	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs536944175	chr16:48417811-48417812	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs140981089	chr16:48417844-48417845	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs183196361	chr16:48417874-48417875	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs534297126	chr16:48417889-48417890	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs557445020	chr16:48417900-48417901	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs114983571	chr16:48417917-48417918	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs543240350	chr16:48417945-48417946	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs563137765	chr16:48417999-48418000	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs573892054	chr16:48418029-48418030	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs143213737	chr16:48418031-48418032	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs559336178	chr16:48418052-48418053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs186309088	chr16:48418057-48418058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs551783976	chr16:48418086-48418087	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs534919148	chr16:48418161-48418162	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs565408071	chr16:48418173-48418174	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs538359545	chr16:48418185-48418186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs531024154	chr16:48418195-48418196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs150876465	chr16:48418218-48418219	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs4785518	chr16:48418274-48418275	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs139326359	chr16:48418321-48418322	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs575886760	chr16:48418398-48418399	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs546370108	chr16:48418403-48418404	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs150005106	chr16:48418407-48418408	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs547296458	chr16:48418411-48418412	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs191550754	chr16:48418441-48418442	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs145208635	chr16:48418460-48418461	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs557307574	chr16:48418462-48418463	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs577362209	chr16:48418476-48418477	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs140033675	chr16:48418479-48418480	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs556597472	chr16:48418494-48418495	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs573782398	chr16:48418512-48418513	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs558225102	chr16:48418525-48418526	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs182472795	chr16:48418543-48418544	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs559634680	chr16:48418565-48418566	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs573032808	chr16:48418566-48418567	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs111404391	chr16:48418660-48418661	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs545466427	chr16:48418824-48418825	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs112033176	chr16:48418901-48418902	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs191324932	chr16:48418957-48418958	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs565270861	chr16:48419097-48419098	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs538295503	chr16:48419123-48419124	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs551099380	chr16:48419225-48419226	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs561200032	chr16:48419279-48419280	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs543688431	chr16:48419292-48419293	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs530334391	chr16:48419363-48419364	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs546859601	chr16:48419394-48419395	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs542576035	chr16:48419405-48419406	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs567178507	chr16:48419408-48419409	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs541337707	chr16:48419425-48419426	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:48409400-48417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:48411800-48417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:48413200-48417800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:48414200-48417800	Weak transcription	Esophagus	oesophagus
6	chr16:48414200-48417800	Weak transcription	Small Intestine	intestine
7	chr16:48414400-48418000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:48415200-48417800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:48415200-48418200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr16:48415400-48417800	Weak transcription	Gastric	stomach
11	chr16:48415400-48419800	Active TSS	GM12878-XiMat	blood
12	chr16:48416200-48417800	Weak transcription	Spleen	Spleen
13	chr16:48416200-48418200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:48416400-48417800	Weak transcription	Lung	lung
15	chr16:48416800-48418000	Flanking Active TSS	Liver	Liver
16	chr16:48416800-48418200	Flanking Active TSS	Dnd41	blood
17	chr16:48416800-48418200	Flanking Active TSS	NHEK	skin
18	chr16:48416800-48418400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr16:48416800-48420200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:48416800-48420200	Active TSS	HSMMtube	muscle
21	chr16:48416800-48420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr16:48417000-48417800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr16:48417000-48417800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr16:48417000-48418200	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr16:48417000-48418600	Active TSS	Fetal Kidney	kidney
26	chr16:48417000-48419800	Active TSS	Brain Germinal Matrix	brain
27	chr16:48417000-48419800	Active TSS	Placenta	Placenta
28	chr16:48417000-48419800	Active TSS	HMEC	breast
29	chr16:48417000-48419800	Active TSS	NHLF	lung
30	chr16:48417000-48420000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:48417000-48420000	Active TSS	NHDF-Ad	bronchial
32	chr16:48417200-48417800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr16:48417200-48417800	Enhancers	Primary B cells from peripheral blood	blood
34	chr16:48417200-48417800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr16:48417200-48417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr16:48417200-48417800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:48417200-48417800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:48417200-48417800	Flanking Active TSS	Fetal Heart	heart
39	chr16:48417200-48417800	Enhancers	Stomach Mucosa	stomach
40	chr16:48417200-48418000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr16:48417200-48418000	Flanking Active TSS	HUVEC	blood vessel
42	chr16:48417200-48418000	Flanking Active TSS	K562	blood
43	chr16:48417200-48418000	Flanking Active TSS	Osteobl	bone
44	chr16:48417200-48418200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr16:48417200-48418200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr16:48417200-48418200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr16:48417200-48418200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr16:48417200-48418200	Flanking Active TSS	Hela-S3	cervix
49	chr16:48417200-48418400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr16:48417200-48418400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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