Variant report

Variant	nsv458746
Chromosome Location	chr19:53288873-53357911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:850)
CpG islands
(count:1407)
Chromatin interactive
region (count:12)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:850 , 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	ATF1	chr19:53289778-53290273	K562	blood:	n/a	n/a
2	BACH1	chr19:53289805-53290074	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr19:53324738-53324945	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr19:53336688-53337003	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
5	BATF	chr19:53294543-53294932	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
6	BATF	chr19:53336721-53337013	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
7	BATF	chr19:53294643-53295039	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
8	BCLAF1	chr19:53289804-53290138	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:53289858-53290162	K562	blood:	n/a	chr19:53290133-53290149
10	BHLHE40	chr19:53324867-53324898	K562	blood:	n/a	n/a
11	BHLHE40	chr19:53289647-53290152	GM12878	blood:	n/a	chr19:53290133-53290149
12	CBX3	chr19:53303081-53303524	K562	blood:	n/a	n/a
13	CBX3	chr19:53324640-53325255	K562	blood:	n/a	n/a
14	CBX3	chr19:53289830-53290471	K562	blood:	n/a	n/a
15	CBX3	chr19:53303091-53303540	K562	blood:	n/a	n/a
16	CCNT2	chr19:53289971-53290185	K562	blood:	n/a	n/a
17	CEBPB	chr19:53329012-53329572	K562	blood:	n/a	n/a
18	CEBPB	chr19:53345865-53346133	HepG2	liver:	n/a	chr19:53346019-53346030
19	CEBPB	chr19:53319087-53319167	HepG2	liver:	n/a	chr19:53319119-53319130
20	CEBPB	chr19:53328995-53329384	K562	blood:	n/a	n/a
21	CEBPB	chr19:53329098-53329325	K562	blood:	n/a	n/a
22	CEBPB	chr19:53345961-53346152	A549	lung:	n/a	chr19:53346019-53346030
23	CEBPB	chr19:53329092-53329271	MCF-7	breast:	n/a	n/a
24	CEBPB	chr19:53300965-53301050	IMR90	lung:	n/a	n/a
25	CEBPB	chr19:53345864-53346169	IMR90	lung:	n/a	chr19:53346019-53346030
26	CEBPB	chr19:53329163-53329370	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPD	chr19:53329085-53329417	K562	blood:	n/a	n/a
28	CEBPD	chr19:53289841-53290077	HepG2	liver:	n/a	n/a
29	CHD1	chr19:53289738-53290083	GM12878	blood:	n/a	n/a
30	CHD2	chr19:53289956-53290094	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr19:53289809-53290170	GM12878	blood:	n/a	n/a
32	CHD2	chr19:53289907-53290180	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr19:53289926-53290096	HepG2	liver:	n/a	n/a
34	CTCF	chr19:53352092-53352147	GM13976	blood:	n/a	n/a
35	CTCF	chr19:53290040-53290190	AG04450	lung:	n/a	n/a
36	CTCF	chr19:53324949-53325037	LNCaP	prostate:	n/a	chr19:53325004-53325017
37	CTCF	chr19:53290080-53290230	Caco-2	colon:	n/a	n/a
38	CTCF	chr19:53289920-53290070	Caco-2	colon:	n/a	n/a
39	CTCF	chr19:53290100-53290250	NHEK	skin:	n/a	n/a
40	CTCF	chr19:53290083-53290189	GM13976	blood:	n/a	n/a
41	CTCF	chr19:53290040-53290190	GM12867	blood:	n/a	n/a
42	CTCF	chr19:53289880-53290345	K562	blood:	n/a	n/a
43	CTCF	chr19:53290060-53290210	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr19:53325000-53325150	HBMEC	blood vessel:	n/a	chr19:53325004-53325017
45	CTCF	chr19:53290060-53290210	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr19:53290060-53290210	HEK293	kidney:	n/a	n/a
47	CTCF	chr19:53290000-53290150	SAEC	small airway:	n/a	n/a
48	CTCF	chr19:53290160-53290310	HRE	kidney:	n/a	n/a
49	CTCF	chr19:53290060-53290210	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr19:53290064-53290171	Pancreas_OC	pancreas:	n/a	n/a

(count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53290312-53290362	PANC-1	pancreas:	n/a
2	chr19:53289933-53289983	HCT-116	colon:	n/a
3	chr19:53325913-53325963	PANC-1	pancreas:	n/a
4	chr19:53302456-53302506	AG04449	skin:	fetal
5	chr19:53290312-53290362	PANC-1	pancreas:	n/a
6	chr19:53289933-53289983	HCT-116	colon:	n/a
7	chr19:53325913-53325963	PANC-1	pancreas:	n/a
8	chr19:53302456-53302506	AG04449	skin:	fetal
9	chr19:53324198-53324248	LNCaP	prostate:	n/a
10	chr19:53326091-53326141	GM19239	blood:	n/a
11	chr19:53325104-53325154	HAEpiC	amniotic membrane:	n/a
12	chr19:53324732-53324782	RPTEC	kidney:	n/a
13	chr19:53326219-53326269	PFSK-1	brain:	n/a
14	chr19:53324278-53324328	Hela-S3	cervix:	n/a
15	chr19:53290126-53290176	ProgFib	skin:	n/a
16	chr19:53290445-53290495	NT2-D1	testis:	n/a
17	chr19:53290312-53290362	HEK293	kidney:	embryo
18	chr19:53325913-53325963	HCPEpiC	choroid plexus:	n/a
19	chr19:53290147-53290197	PANC-1	pancreas:	n/a
20	chr19:53290147-53290197	LNCaP	prostate:	n/a
21	chr19:53289524-53289574	HRE	kidney:	n/a
22	chr19:53290312-53290362	Hela-S3	cervix:	n/a
23	chr19:53325080-53325130	HRCEpiC	kidney:	n/a
24	chr19:53290445-53290495	SKMC	muscle:	n/a
25	chr19:53324732-53324782	Caco-2	colon:	n/a
26	chr19:53290445-53290495	GM12878	blood:	n/a
27	chr19:53290126-53290176	HRE	kidney:	n/a
28	chr19:53325080-53325130	SK-N-SH_RA	brain:	n/a
29	chr19:53290147-53290197	HAEpiC	amniotic membrane:	n/a
30	chr19:53326091-53326141	A549	lung:	n/a
31	chr19:53289524-53289574	GM06990	blood:	n/a
32	chr19:53325104-53325154	ProgFib	skin:	n/a
33	chr19:53303448-53303498	BJ	skin:	n/a
34	chr19:53342580-53342630	T-47D	breast:	n/a
35	chr19:53290079-53290129	HAEpiC	amniotic membrane:	n/a
36	chr19:53324198-53324248	Jurkat	blood:	n/a
37	chr19:53357134-53357184	HEEpiC	esophagus:	n/a
38	chr19:53326219-53326269	K562	blood:	n/a
39	chr19:53290126-53290176	HRCEpiC	kidney:	n/a
40	chr19:53289933-53289983	GM12891	blood:	n/a
41	chr19:53325104-53325154	SAEC	small airway:	n/a
42	chr19:53324278-53324328	SAEC	small airway:	n/a
43	chr19:53290205-53290255	AG09309	skin:	n/a
44	chr19:53290079-53290129	PrEC	prostate:	n/a
45	chr19:53342580-53342630	SK-N-MC	brain:	n/a
46	chr19:53290445-53290495	ProgFib	skin:	n/a
47	chr19:53290102-53290152	T-47D	breast:	n/a
48	chr19:53325080-53325130	AG09309	skin:	n/a
49	chr19:53302456-53302506	GM12878	blood:	n/a
50	chr19:53326091-53326141	SAEC	small airway:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53335113..53339470-chr19:53340101..53344099,5	K562	blood:
2	chr19:53335113..53339470-chr19:53340101..53344099,5	K562	blood:
3	chr19:53322321..53326212-chr19:53359240..53361245,4	K562	blood:
4	chr19:53324392..53324894-chr19:53934932..53935516,2	MCF-7	breast:
5	chr19:53296635..53299410-chr19:53311177..53313587,2	K562	blood:
6	chr19:53357060..53358583-chr19:53400479..53402706,2	MCF-7	breast:
7	chr19:53338835..53341536-chr19:53343202..53344870,2	K562	blood:
8	chr19:53322321..53326212-chr19:53359321..53361245,3	K562	blood:
9	chr19:53338835..53341536-chr19:53343202..53344870,2	K562	blood:
10	chr19:53288948..53291766-chr19:53301308..53304079,2	K562	blood:
11	chr19:53339213..53341134-chr20:46203984..46206130,2	MCF-7	breast:
12	chr19:53324497..53325251-chr19:53360339..53360857,4	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF600-1	chr19:53289848-53290044	NONHSAT067582
2	lnc-ZNF600-1	chr19:53289848-53290024	NONHSAT067584
3	lnc-ZNF468-3	chr19:53311129-53311386	NONHSAT067588
4	lnc-ZNF468-1	chr19:53352340-53352466	NR_102300
5	lnc-ZNF468-1	chr19:53357511-53357598	NR_102299
6	lnc-ZNF468-1	chr19:53357125-53357360	NR_102300
7	lnc-ZNF468-3	chr19:53321197-53321281	NONHSAT067589
8	lnc-ZNF468-1	chr19:53348432-53348549	NR_102300
9	lnc-ZNF468-1	chr19:53357125-53357379	NR_102301
10	lnc-ZNF701-2	chr19:53301030-53301858	NONHSAT067586
11	lnc-ZNF600-1	chr19:53289848-53289977	NONHSAT067583
12	lnc-ZNF701-2	chr19:53300917-53301869	NONHSAT067585
13	lnc-ZNF468-1	chr19:53341785-53345404	NR_102300
14	lnc-ZNF468-1	chr19:53341785-53345404	NR_102299
15	lnc-ZNF468-1	chr19:53357511-53357598	NR_102301
16	lnc-ZNF468-1	chr19:53348432-53348549	NR_102299
17	lnc-ZNF468-1	chr19:53357511-53357598	NR_102300
18	lnc-ZNF468-1	chr19:53352340-53352466	NR_102301
19	lnc-ZNF468-1	chr19:53352340-53352466	NR_102299
20	lnc-ZNF468-1	chr19:53341785-53345404	NR_102301
21	lnc-ZNF468-3	chr19:53321197-53321284	NONHSAT067588
22	lnc-ZNF701-2	chr19:53342913-53343520	NONHSAT067585
23	lnc-ZNF468-3	chr19:53317537-53317679	NONHSAT067589
24	lnc-ZNF468-1	chr19:53357125-53357379	NR_102299
25	lnc-ZNF468-3	chr19:53324839-53324886	NONHSAT067588

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF28	hsa-miR-155-5p	chr19:53301652-53301677
2	ZNF28	hsa-miR-155-5p	chr19:53301585-53301611

Variant related genes	Relation type
ZNF28	TF binding region
ZNF468	TF binding region
ENSG00000255875	TF binding region
ZNF600	TF binding region
ZNF28	CpG island
ZNF468	CpG island
ENSG00000255875	CpG island
ZNF600	CpG island
ENSG00000160336	chromatin interactions
ENSG00000198538	chromatin interactions
ENSG00000241015	chromatin interactions
ENSG00000204604	chromatin interactions
ENSG00000189190	chromatin interactions
ENSG00000255875	chromatin interactions
ENSG00000182986	chromatin interactions
HAUS6	miRNA target sites

Extended variants
information (count: 3696 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3696 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12973596	chr19:53288873-53288874	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539863461	chr19:53288931-53288932	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190104494	chr19:53288933-53288934	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553409593	chr19:53288938-53288939	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565351775	chr19:53288943-53288944	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139641913	chr19:53288956-53288957	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114608629	chr19:53288977-53288978	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576269236	chr19:53288986-53288987	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543290466	chr19:53288993-53288994	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10416542	chr19:53288999-53289000	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181773288	chr19:53289029-53289030	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542360656	chr19:53289037-53289038	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560544881	chr19:53289057-53289058	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373440029	chr19:53289065-53289066	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539254848	chr19:53289067-53289068	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs28475549	chr19:53289072-53289073	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs151207979	chr19:53289087-53289088	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368303950	chr19:53289118-53289119	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532029145	chr19:53289133-53289134	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557579101	chr19:53289148-53289149	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370926499	chr19:53289162-53289163	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12974375	chr19:53289174-53289175	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs368153784	chr19:53289215-53289216	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547110364	chr19:53289245-53289246	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71361210	chr19:53289274-53289275	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551382594	chr19:53289303-53289304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565415598	chr19:53289316-53289317	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543295996	chr19:53289323-53289324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185038323	chr19:53289333-53289334	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188772396	chr19:53289335-53289336	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371084240	chr19:53289424-53289425	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs569894980	chr19:53289446-53289447	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs537353253	chr19:53289450-53289451	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs555331079	chr19:53289458-53289459	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs112201957	chr19:53289460-53289461	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs541206906	chr19:53289498-53289499	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs554344551	chr19:53289510-53289511	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs572563655	chr19:53289519-53289520	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs368157659	chr19:53289546-53289547	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs573238568	chr19:53289553-53289554	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs375250061	chr19:53289599-53289600	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs10416670	chr19:53289601-53289602	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531567255	chr19:53289621-53289622	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs550090010	chr19:53289650-53289651	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs565415361	chr19:53289657-53289658	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs563066687	chr19:53289788-53289789	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs544110119	chr19:53289815-53289816	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs4802996	chr19:53289873-53289874	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
49	rs562214582	chr19:53289903-53289904	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
50	rs374999713	chr19:53289918-53289919	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2245 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53270400-53289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:53270400-53289200	Weak transcription	NHLF	lung
3	chr19:53270400-53289400	Weak transcription	Brain Anterior Caudate	brain
4	chr19:53270600-53289200	Weak transcription	Brain Substantia Nigra	brain
5	chr19:53270800-53289400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr19:53271200-53289200	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:53271600-53289000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:53273600-53289400	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:53273800-53289200	Weak transcription	Psoas Muscle	Psoas
10	chr19:53276200-53289000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:53276200-53289000	Weak transcription	Right Ventricle	heart
12	chr19:53277000-53289200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr19:53277000-53289200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:53277600-53289000	Weak transcription	Pancreas	Pancrea
15	chr19:53277800-53289200	Weak transcription	Fetal Muscle Leg	muscle
16	chr19:53278000-53289400	Weak transcription	Small Intestine	intestine
17	chr19:53278000-53289400	Weak transcription	HSMMtube	muscle
18	chr19:53278200-53289000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:53278200-53289200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:53278400-53289000	Weak transcription	Colonic Mucosa	Colon
21	chr19:53280800-53289200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:53281200-53289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:53282000-53289000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:53282000-53289200	Weak transcription	Fetal Stomach	stomach
25	chr19:53282000-53289200	Weak transcription	Left Ventricle	heart
26	chr19:53282000-53289200	Weak transcription	Ovary	ovary
27	chr19:53282200-53289200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:53282400-53289000	Weak transcription	Hela-S3	cervix
29	chr19:53283400-53289400	Weak transcription	Aorta	Aorta
30	chr19:53284400-53289000	Weak transcription	Thymus	Thymus
31	chr19:53284600-53289000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:53284600-53289000	Weak transcription	NHEK	skin
33	chr19:53284600-53289200	Weak transcription	Adipose Nuclei	Adipose
34	chr19:53284800-53289000	Weak transcription	HMEC	breast
35	chr19:53285000-53289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:53285000-53289000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:53285000-53289200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:53285000-53289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:53285200-53289000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:53285200-53289000	Weak transcription	Gastric	stomach
41	chr19:53285200-53289000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr19:53285400-53289200	Weak transcription	Stomach Mucosa	stomach
43	chr19:53285600-53289200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:53285800-53289000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:53287200-53289000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:53287400-53289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:53287400-53289000	Enhancers	Dnd41	blood
48	chr19:53287400-53289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:53287400-53290600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:53287800-53289000	Enhancers	Primary T helper cells fromperipheralblood	blood

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