Variant report

Variant	nsv911799
Chromosome Location	chr19:42905645-42930652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1350)
CpG islands
(count:1406)
Chromatin interactive
region (count:37)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1350 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42905478-42905731	K562	blood:	n/a	n/a
2	ARID3A	chr19:42924330-42924562	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:42905543-42905768	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:42927405-42927427	HepG2	liver:	n/a	n/a
5	ATF1	chr19:42924212-42924515	K562	blood:	n/a	n/a
6	ATF2	chr19:42924128-42924576	GM12878	blood:	n/a	n/a
7	ATF2	chr19:42924079-42924520	GM12878	blood:	n/a	n/a
8	ATF2	chr19:42927036-42927474	GM12878	blood:	n/a	n/a
9	ATF2	chr19:42924079-42924489	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr19:42924180-42924506	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr19:42927187-42927770	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr19:42907129-42907287	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr19:42906009-42906392	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr19:42926950-42927301	GM12878	blood:	n/a	n/a
15	BCL3	chr19:42926895-42928320	A549	lung:	n/a	chr19:42927843-42927856 chr19:42927842-42927851 chr19:42927888-42927897 chr19:42927855-42927864
16	BCL3	chr19:42905879-42906251	GM12878	blood:	n/a	n/a
17	BCL3	chr19:42905332-42906631	A549	lung:	n/a	n/a
18	BCL3	chr19:42904890-42906637	A549	lung:	n/a	n/a
19	BCLAF1	chr19:42905382-42905834	GM12878	blood:	n/a	n/a
20	BHLHE40	chr19:42924241-42924627	K562	blood:	n/a	n/a
21	BHLHE40	chr19:42924237-42924629	HepG2	liver:	n/a	n/a
22	BHLHE40	chr19:42906129-42906266	K562	blood:	n/a	n/a
23	BHLHE40	chr19:42905595-42905671	K562	blood:	n/a	n/a
24	BHLHE40	chr19:42924258-42924559	GM12878	blood:	n/a	n/a
25	BHLHE40	chr19:42927069-42928123	GM12878	blood:	n/a	n/a
26	BHLHE40	chr19:42927250-42927653	HepG2	liver:	n/a	n/a
27	BHLHE40	chr19:42915926-42916072	K562	blood:	n/a	n/a
28	BRCA1	chr19:42927162-42927582	GM12878	blood:	n/a	n/a
29	BRCA1	chr19:42927869-42928021	GM12878	blood:	n/a	n/a
30	BRCA1	chr19:42927281-42927600	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr19:42906228-42906265	GM12878	blood:	n/a	n/a
32	CBX3	chr19:42924195-42924446	K562	blood:	n/a	n/a
33	CBX3	chr19:42905995-42906319	K562	blood:	n/a	n/a
34	CBX3	chr19:42924093-42924544	K562	blood:	n/a	n/a
35	CCNT2	chr19:42905996-42906282	K562	blood:	n/a	n/a
36	CEBPB	chr19:42906006-42906338	A549	lung:	n/a	n/a
37	CEBPB	chr19:42927627-42927885	HepG2	liver:	n/a	n/a
38	CEBPB	chr19:42924274-42924832	IMR90	lung:	n/a	n/a
39	CEBPB	chr19:42924156-42924559	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr19:42924172-42924596	A549	lung:	n/a	n/a
41	CEBPB	chr19:42927467-42928125	A549	lung:	n/a	n/a
42	CEBPB	chr19:42927592-42927979	A549	lung:	n/a	n/a
43	CEBPB	chr19:42924184-42924488	K562	blood:	n/a	n/a
44	CEBPB	chr19:42927596-42927980	IMR90	lung:	n/a	n/a
45	CEBPB	chr19:42905986-42906404	MCF-7	breast:	n/a	n/a
46	CEBPB	chr19:42928170-42928496	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr19:42924097-42924517	MCF-7	breast:	n/a	n/a
48	CEBPB	chr19:42924216-42924428	HepG2	liver:	n/a	n/a
49	CEBPB	chr19:42927405-42927967	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr19:42905881-42906454	A549	lung:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42909519-42909569	IMR90	lung:	fetal
2	chr19:42905978-42906028	GM19239	blood:	n/a
3	chr19:42915372-42915422	HRPEpiC	eye:	n/a
4	chr19:42909519-42909569	IMR90	lung:	fetal
5	chr19:42905978-42906028	GM19239	blood:	n/a
6	chr19:42915372-42915422	HRPEpiC	eye:	n/a
7	chr19:42905724-42905774	NH-A	brain:	n/a
8	chr19:42916966-42917016	MCF-7	breast:	n/a
9	chr19:42909519-42909569	HRE	kidney:	n/a
10	chr19:42914542-42914592	HCF	heart:	n/a
11	chr19:42912486-42912536	HCPEpiC	choroid plexus:	n/a
12	chr19:42927074-42927124	HL-60	blood:	n/a
13	chr19:42913736-42913786	H1-hESC	embryonic stem cell:	embryo
14	chr19:42905724-42905774	ECC-1	luminal epithelium:	n/a
15	chr19:42906601-42906651	NH-A	brain:	n/a
16	chr19:42927668-42927718	HEK293	kidney:	embryo
17	chr19:42928195-42928245	HEK293	kidney:	embryo
18	chr19:42916673-42916723	HL-60	blood:	n/a
19	chr19:42915372-42915422	NHDF-neo	bronchial:	n/a
20	chr19:42927676-42927726	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:42914685-42914735	GM19239	blood:	n/a
22	chr19:42928195-42928245	PFSK-1	brain:	n/a
23	chr19:42928195-42928245	HRPEpiC	eye:	n/a
24	chr19:42927676-42927726	LNCaP	prostate:	n/a
25	chr19:42912486-42912536	H1-hESC	embryonic stem cell:	embryo
26	chr19:42914685-42914735	HCPEpiC	choroid plexus:	n/a
27	chr19:42905724-42905774	CMK	blood:	n/a
28	chr19:42915372-42915422	HL-60	blood:	n/a
29	chr19:42928015-42928065	GM12878	blood:	n/a
30	chr19:42929067-42929117	GM19239	blood:	n/a
31	chr19:42913736-42913786	HRE	kidney:	n/a
32	chr19:42905978-42906028	T-47D	breast:	n/a
33	chr19:42913736-42913786	HRCEpiC	kidney:	n/a
34	chr19:42929067-42929117	HCT-116	colon:	n/a
35	chr19:42930652-42930702	BJ	skin:	n/a
36	chr19:42914685-42914735	ECC-1	luminal epithelium:	n/a
37	chr19:42928195-42928245	U87	brain:	n/a
38	chr19:42916632-42916682	GM06990	blood:	n/a
39	chr19:42906601-42906651	Hela-S3	cervix:	n/a
40	chr19:42930652-42930702	CMK	blood:	n/a
41	chr19:42928195-42928245	ovcar-3	ovarian:	n/a
42	chr19:42913736-42913786	U87	brain:	n/a
43	chr19:42914685-42914735	T-47D	breast:	n/a
44	chr19:42912486-42912536	RPTEC	kidney:	n/a
45	chr19:42913736-42913786	HepG2	liver:	n/a
46	chr19:42928015-42928065	ProgFib	skin:	n/a
47	chr19:42927668-42927718	HNPCEpiC	eye:	n/a
48	chr19:42914542-42914592	ProgFib	skin:	n/a
49	chr19:42927676-42927726	NT2-D1	testis:	n/a
50	chr19:42927668-42927718	GM12878	blood:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
2	chr19:42927142..42929606-chr19:42930289..42932952,2	MCF-7	breast:
3	chr19:42838444..42841386-chr19:42911840..42914097,2	K562	blood:
4	chr19:42903448..42905839-chr19:42923535..42926055,2	MCF-7	breast:
5	chr19:42923683..42924698-chr19:42937367..42938479,4	MCF-7	breast:
6	chr19:42927142..42929606-chr19:42930289..42932952,2	MCF-7	breast:
7	chr19:42923954..42924758-chr2:222313250..222313936,2	MCF-7	breast:
8	chr19:42771317..42774035-chr19:42904213..42905727,2	MCF-7	breast:
9	chr19:42921780..42924678-chr19:42930501..42932558,2	K562	blood:
10	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
11	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
12	chr19:42787351..42790273-chr19:42916971..42918941,2	MCF-7	breast:
13	chr19:42756817..42759213-chr19:42911036..42912786,2	MCF-7	breast:
14	chr19:42900679..42903538-chr19:42909669..42912049,2	K562	blood:
15	chr19:42921780..42924507-chr19:42929179..42932042,4	K562	blood:
16	chr19:42637501..42639898-chr19:42924232..42925782,2	K562	blood:
17	chr19:42904602..42907517-chr19:42908247..42910710,2	MCF-7	breast:
18	chr19:42924851..42926943-chr19:42928310..42931390,3	MCF-7	breast:
19	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
20	chr19:42923833..42924814-chr19:42944126..42944646,2	K562	blood:
21	chr19:42904602..42907517-chr19:42908247..42910710,2	MCF-7	breast:
22	chr19:42583843..42585623-chr19:42905148..42907036,2	MCF-7	breast:
23	chr19:42905670..42907944-chr19:42921112..42922967,2	K562	blood:
24	chr19:42910085..42911859-chr19:42913757..42916250,2	MCF-7	breast:
25	chr19:42593805..42596172-chr19:42919024..42921548,2	K562	blood:
26	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
27	chr19:42905458..42907156-chr19:42917466..42920003,2	K562	blood:
28	chr19:42923925..42924921-chr19:42937449..42938520,3	K562	blood:
29	chr19:42925339..42926995-chr19:42928878..42931861,2	K562	blood:
30	chr19:42829022..42830328-chr19:42905348..42906313,3	MCF-7	breast:
31	chr19:42901013..42903466-chr19:42908156..42911805,3	MCF-7	breast:
32	chr19:42787574..42789864-chr19:42923760..42926145,2	MCF-7	breast:
33	chr19:42747404..42749057-chr19:42923034..42925507,2	K562	blood:
34	chr19:42682574..42684413-chr19:42921728..42924640,2	K562	blood:
35	chr19:42636919..42637858-chr19:42905037..42905701,9	K562	blood:
36	chr19:42923927..42924838-chr19:42937872..42938431,4	MCF-7	breast:
37	chr19:42900219..42901127-chr19:42923966..42924540,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:42912410-42912604	ENSG00000213904.4
2	lnc-AC011497.1-2	chr19:42905734-42905799	ENSG00000213904.4
3	lnc-AC011497.1-2	chr19:42927907-42929356	NONHSAT066551
4	lnc-AC011497.1-2	chr19:42912410-42912594	ENSG00000213904.4
5	lnc-CXCL17-1	chr19:42928816-42929223	ENSG00000268605.1
6	lnc-AC011497.1-2	chr19:42928421-42929356	ENSG00000213904.4
7	lnc-CXCL17-1	chr19:42928536-42928688	ENSG00000268605.1
8	lnc-AC011497.1-2	chr19:42928465-42929294	ENSG00000213904.4
9	lnc-AC011497.1-2	chr19:42927907-42929356	ENSG00000213904.4

No data

Variant related genes	Relation type
LIPE-AS1	TF binding region
ENSG00000268605	TF binding region
LIPE	TF binding region
LIPE-AS1	CpG island
ENSG00000268605	CpG island
LIPE	CpG island
ENSG00000266226	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000254887	chromatin interactions
ENSG00000079435	chromatin interactions
ENSG00000268605	chromatin interactions
ENSG00000105429	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000268525	chromatin interactions

Extended variants
information (count: 1081 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36024215	chr19:42905645-42905646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529196566	chr19:42905733-42905734	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs186606298	chr19:42905737-42905738	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs567854890	chr19:42905739-42905740	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs113461674	chr19:42905742-42905743	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs34462078	chr19:42905782-42905783	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs851304	chr19:42905830-42905831	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs184011567	chr19:42905942-42905943	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs530744411	chr19:42905947-42905948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs538690370	chr19:42905972-42905973	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs201301144	chr19:42905974-42905975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs188554466	chr19:42905994-42905995	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs572063779	chr19:42906004-42906005	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs36104839	chr19:42906024-42906025	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs560990701	chr19:42906072-42906073	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs201698347	chr19:42906075-42906076	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs1800537	chr19:42906105-42906106	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs565024075	chr19:42906143-42906144	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs193061079	chr19:42906155-42906156	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs377490976	chr19:42906163-42906164	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs547461650	chr19:42906166-42906167	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs369900988	chr19:42906201-42906202	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs370837760	chr19:42906210-42906211	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs559391093	chr19:42906240-42906241	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs35620536	chr19:42906267-42906268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs386809418	chr19:42906271-42906272	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs35639038	chr19:42906273-42906274	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs538468287	chr19:42906327-42906328	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs112134127	chr19:42906359-42906360	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs10422301	chr19:42906383-42906384	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571454887	chr19:42906391-42906392	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561814276	chr19:42906428-42906429	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs373506488	chr19:42906571-42906572	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs375618519	chr19:42906610-42906611	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs553808674	chr19:42906625-42906626	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs368676153	chr19:42906632-42906633	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs572124213	chr19:42906640-42906641	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs536216399	chr19:42906658-42906659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs34448266	chr19:42906725-42906726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34274496	chr19:42906741-42906742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs200083881	chr19:42906742-42906743	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs113246065	chr19:42906757-42906758	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs201362349	chr19:42906800-42906801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs137885656	chr19:42906838-42906839	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs371743888	chr19:42906839-42906840	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs372004452	chr19:42906841-42906842	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs140658352	chr19:42906846-42906847	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201344756	chr19:42906851-42906852	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs199985542	chr19:42906866-42906867	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs202185683	chr19:42906869-42906870	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:1556 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42904800-42905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:42904800-42906800	Enhancers	Fetal Heart	heart
3	chr19:42905000-42906600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:42905000-42907000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:42905000-42907000	Enhancers	Spleen	Spleen
6	chr19:42905200-42905800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:42905200-42905800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:42905200-42905800	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr19:42905200-42905800	Flanking Active TSS	Esophagus	oesophagus
10	chr19:42905200-42906000	Enhancers	Adipose Nuclei	Adipose
11	chr19:42905200-42906200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:42905200-42906200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:42905200-42906400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:42905200-42906400	Enhancers	Stomach Mucosa	stomach
15	chr19:42905200-42906600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:42905200-42906600	Active TSS	Fetal Kidney	kidney
17	chr19:42905200-42906800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:42905200-42906800	Active TSS	A549	lung
19	chr19:42905200-42907000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:42905400-42905800	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:42905400-42905800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr19:42905400-42905800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr19:42905400-42905800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:42905400-42905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:42905400-42905800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:42905400-42905800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:42905400-42905800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:42905400-42905800	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr19:42905400-42905800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr19:42905400-42905800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr19:42905400-42905800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr19:42905400-42905800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr19:42905400-42905800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr19:42905400-42906000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:42905400-42906200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:42905400-42906200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr19:42905400-42906200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr19:42905400-42906200	Active TSS	Osteobl	bone
39	chr19:42905400-42906400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:42905400-42906400	Active TSS	Fetal Lung	lung
41	chr19:42905400-42906400	Flanking Active TSS	Dnd41	blood
42	chr19:42905400-42906400	Active TSS	HSMM	muscle
43	chr19:42905400-42906600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:42905400-42906600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:42905400-42906600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:42905400-42906600	Active TSS	Fetal Brain Female	brain
47	chr19:42905400-42906600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr19:42905400-42906800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:42905400-42906800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:42905400-42906800	Active TSS	Pancreatic Islets	Pancreatic Islet

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