Variant report

Variant	nsv911800
Chromosome Location	chr19:42906914-42930652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:844)
CpG islands
(count:1224)
Chromatin interactive
region (count:33)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42927405-42927427	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42924330-42924562	HepG2	liver:	n/a	n/a
3	ATF1	chr19:42924212-42924515	K562	blood:	n/a	n/a
4	ATF2	chr19:42924079-42924520	GM12878	blood:	n/a	n/a
5	ATF2	chr19:42924079-42924489	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:42924128-42924576	GM12878	blood:	n/a	n/a
7	ATF2	chr19:42927036-42927474	GM12878	blood:	n/a	n/a
8	ATF3	chr19:42924180-42924506	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr19:42907129-42907287	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr19:42927187-42927770	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr19:42926950-42927301	GM12878	blood:	n/a	n/a
12	BCL3	chr19:42926895-42928320	A549	lung:	n/a	chr19:42927843-42927856 chr19:42927842-42927851 chr19:42927888-42927897 chr19:42927855-42927864
13	BHLHE40	chr19:42927250-42927653	HepG2	liver:	n/a	n/a
14	BHLHE40	chr19:42924241-42924627	K562	blood:	n/a	n/a
15	BHLHE40	chr19:42927069-42928123	GM12878	blood:	n/a	n/a
16	BHLHE40	chr19:42915926-42916072	K562	blood:	n/a	n/a
17	BHLHE40	chr19:42924237-42924629	HepG2	liver:	n/a	n/a
18	BHLHE40	chr19:42924258-42924559	GM12878	blood:	n/a	n/a
19	BRCA1	chr19:42927281-42927600	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr19:42927162-42927582	GM12878	blood:	n/a	n/a
21	BRCA1	chr19:42927869-42928021	GM12878	blood:	n/a	n/a
22	CBX3	chr19:42924093-42924544	K562	blood:	n/a	n/a
23	CBX3	chr19:42924195-42924446	K562	blood:	n/a	n/a
24	CEBPB	chr19:42927596-42927980	IMR90	lung:	n/a	n/a
25	CEBPB	chr19:42924184-42924488	K562	blood:	n/a	n/a
26	CEBPB	chr19:42927405-42927967	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr19:42928170-42928496	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr19:42924216-42924428	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:42927592-42927979	A549	lung:	n/a	n/a
30	CEBPB	chr19:42924274-42924832	IMR90	lung:	n/a	n/a
31	CEBPB	chr19:42924156-42924559	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr19:42924172-42924596	A549	lung:	n/a	n/a
33	CEBPB	chr19:42927627-42927885	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:42927467-42928125	A549	lung:	n/a	n/a
35	CEBPB	chr19:42924097-42924517	MCF-7	breast:	n/a	n/a
36	CEBPB	chr19:42925771-42926067	Hela-S3	cervix:	n/a	n/a
37	CHD1	chr19:42928304-42928485	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr19:42927123-42927699	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr19:42926653-42928296	IMR90	lung:	n/a	n/a
40	CHD1	chr19:42923999-42924906	IMR90	lung:	n/a	n/a
41	CHD1	chr19:42927905-42928084	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr19:42926733-42928070	GM12878	blood:	n/a	n/a
43	CHD2	chr19:42927396-42928056	GM12878	blood:	n/a	n/a
44	CHD2	chr19:42927511-42928641	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr19:42927454-42928227	A549	lung:	n/a	n/a
46	CREB1	chr19:42924229-42924587	A549	lung:	n/a	n/a
47	CTCF	chr19:42912105-42912117	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr19:42928900-42929050	HRE	kidney:	n/a	n/a
49	CTCF	chr19:42928940-42929090	A549	lung:	n/a	n/a
50	CTCF	chr19:42928980-42929130	A549	lung:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42916966-42917016	MCF10A-Er-Src	breast:	n/a
2	chr19:42916673-42916723	AG10803	skin:	n/a
3	chr19:42927668-42927718	Hela-S3	cervix:	n/a
4	chr19:42914685-42914735	MCF10A-Er-Src	breast:	n/a
5	chr19:42916966-42917016	MCF10A-Er-Src	breast:	n/a
6	chr19:42916673-42916723	AG10803	skin:	n/a
7	chr19:42927668-42927718	Hela-S3	cervix:	n/a
8	chr19:42914685-42914735	MCF10A-Er-Src	breast:	n/a
9	chr19:42909519-42909569	AG04449	skin:	fetal
10	chr19:42928015-42928065	PANC-1	pancreas:	n/a
11	chr19:42927676-42927726	PANC-1	pancreas:	n/a
12	chr19:42930652-42930702	AG04449	skin:	fetal
13	chr19:42913736-42913786	AG10803	skin:	n/a
14	chr19:42927074-42927124	A549	lung:	n/a
15	chr19:42928015-42928065	HRE	kidney:	n/a
16	chr19:42916673-42916723	HAEpiC	amniotic membrane:	n/a
17	chr19:42916673-42916723	GM19239	blood:	n/a
18	chr19:42909519-42909569	Hela-S3	cervix:	n/a
19	chr19:42927668-42927718	AG04450	lung:	fetal
20	chr19:42913736-42913786	Hela-S3	cervix:	n/a
21	chr19:42930652-42930702	U87	brain:	n/a
22	chr19:42927676-42927726	NT2-D1	testis:	n/a
23	chr19:42928015-42928065	HCM	heart:	n/a
24	chr19:42928597-42928647	PFSK-1	brain:	n/a
25	chr19:42916632-42916682	HL-60	blood:	n/a
26	chr19:42916632-42916682	GM12892	blood:	n/a
27	chr19:42914542-42914592	NHBE	bronchial:	n/a
28	chr19:42927676-42927726	Hela-S3	cervix:	n/a
29	chr19:42928195-42928245	NHBE	bronchial:	n/a
30	chr19:42909519-42909569	HCPEpiC	choroid plexus:	n/a
31	chr19:42928195-42928245	PrEC	prostate:	n/a
32	chr19:42928597-42928647	HCM	heart:	n/a
33	chr19:42916673-42916723	ProgFib	skin:	n/a
34	chr19:42930652-42930702	IMR90	lung:	fetal
35	chr19:42927286-42927336	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:42928597-42928647	Hela-S3	cervix:	n/a
37	chr19:42914828-42914878	HUVEC	blood vessel:	n/a
38	chr19:42927074-42927124	HIPEpiC	eye:	n/a
39	chr19:42914542-42914592	HEEpiC	esophagus:	n/a
40	chr19:42914828-42914878	NHDF-neo	bronchial:	n/a
41	chr19:42927074-42927124	MCF10A-Er-Src	breast:	n/a
42	chr19:42927668-42927718	HEEpiC	esophagus:	n/a
43	chr19:42915372-42915422	SAEC	small airway:	n/a
44	chr19:42930652-42930702	HRCEpiC	kidney:	n/a
45	chr19:42914685-42914735	HPAEpiC	pulmonary alveolar:	n/a
46	chr19:42914501-42914551	Caco-2	colon:	n/a
47	chr19:42915372-42915422	NH-A	brain:	n/a
48	chr19:42927286-42927336	MCF-7	breast:	n/a
49	chr19:42927074-42927124	HCF	heart:	n/a
50	chr19:42927668-42927718	AG04449	skin:	fetal

(count:33 , 50 per page) page: 1

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

(count:8 , 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	chr19:42927907-42929356	ENSG00000213904.4
3	lnc-AC011497.1-2	chr19:42912410-42912594	ENSG00000213904.4
4	lnc-CXCL17-1	chr19:42928816-42929223	ENSG00000268605.1
5	lnc-CXCL17-1	chr19:42928536-42928688	ENSG00000268605.1
6	lnc-AC011497.1-2	chr19:42928421-42929356	ENSG00000213904.4
7	lnc-AC011497.1-2	chr19:42928465-42929294	ENSG00000213904.4
8	lnc-AC011497.1-2	chr19:42927907-42929356	NONHSAT066551

No data

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

Extended variants
information (count: 1030 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1030 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7246232	chr19:42906914-42906915	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)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373542952	chr19:42906920-42906921	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
3	rs561667384	chr19:42906933-42906934	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
4	rs139079641	chr19:42906935-42906936	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
5	rs367909440	chr19:42906963-42906964	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
6	rs371964422	chr19:42906969-42906970	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
7	rs375072131	chr19:42907029-42907030	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs546397416	chr19:42907041-42907042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376702744	chr19:42907060-42907061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs70937099	chr19:42907064-42907065	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149909979	chr19:42907071-42907072	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145794577	chr19:42907079-42907080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs70937098	chr19:42907080-42907081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148983897	chr19:42907110-42907111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201366315	chr19:42907114-42907115	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571518160	chr19:42907137-42907138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144459033	chr19:42907171-42907172	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146635380	chr19:42907174-42907175	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188642115	chr19:42907179-42907180	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141471711	chr19:42907180-42907181	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549248184	chr19:42907198-42907199	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148562619	chr19:42907224-42907225	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536685154	chr19:42907267-42907268	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532504766	chr19:42907268-42907269	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35887063	chr19:42907311-42907312	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs59423801	chr19:42907436-42907437	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs60539663	chr19:42907438-42907439	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs56983822	chr19:42907440-42907441	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs386809419	chr19:42907442-42907443	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113400998	chr19:42907443-42907444	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200935735	chr19:42907444-42907445	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs56025938	chr19:42907446-42907447	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191501148	chr19:42907496-42907497	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141921430	chr19:42907497-42907498	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558773951	chr19:42907512-42907513	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577125159	chr19:42907543-42907544	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541208584	chr19:42907592-42907593	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150647572	chr19:42907596-42907597	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113236540	chr19:42907604-42907605	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370558542	chr19:42907610-42907611	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs76284380	chr19:42907617-42907618	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs76483091	chr19:42907618-42907619	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574577071	chr19:42907631-42907632	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs183657179	chr19:42907727-42907728	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568519089	chr19:42907743-42907744	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs375176221	chr19:42907776-42907777	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537338878	chr19:42907802-42907803	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs35855384	chr19:42907819-42907820	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188122170	chr19:42907825-42907826	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530486813	chr19:42907847-42907848	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 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:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42905000-42907000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:42905000-42907000	Enhancers	Spleen	Spleen
3	chr19:42905200-42907000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:42905400-42907000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:42905400-42907000	Active TSS	Rectal Smooth Muscle	rectum
6	chr19:42905600-42907200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:42906200-42907000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:42906200-42907000	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr19:42906200-42907200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:42906200-42907200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:42906200-42911000	Weak transcription	Gastric	stomach
12	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:42906400-42907000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:42906400-42907000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr19:42906400-42907000	Weak transcription	Primary T cells from cord blood	blood
16	chr19:42906400-42907000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:42906400-42907000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:42906400-42907000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:42906400-42907000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr19:42906400-42907000	Weak transcription	NHEK	skin
21	chr19:42906400-42907200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42906400-42907200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:42906400-42907200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr19:42906400-42907800	Weak transcription	Dnd41	blood
25	chr19:42906400-42908800	Weak transcription	GM12878-XiMat	blood
26	chr19:42906400-42910000	Weak transcription	Left Ventricle	heart
27	chr19:42906400-42913200	Weak transcription	HSMMtube	muscle
28	chr19:42906400-42913600	Weak transcription	Psoas Muscle	Psoas
29	chr19:42906400-42913600	Weak transcription	Stomach Mucosa	stomach
30	chr19:42906400-42913600	Weak transcription	HSMM	muscle
31	chr19:42906400-42915800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:42906400-42916200	Weak transcription	HMEC	breast
33	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
35	chr19:42906600-42907000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:42906600-42907000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:42906600-42907000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:42906600-42907000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr19:42906600-42907000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:42906600-42907000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:42906600-42907000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:42906600-42907000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr19:42906600-42907000	Enhancers	Lung	lung
44	chr19:42906600-42907000	Enhancers	Ovary	ovary
45	chr19:42906600-42907000	Enhancers	NH-A	brain
46	chr19:42906600-42907200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr19:42906600-42907200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr19:42906600-42907200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr19:42906600-42907200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:42906600-42907200	Flanking Active TSS	Brain Anterior Caudate	brain

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