Variant report

Variant	nsv912303
Chromosome Location	chr19:52874140-52928039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:388)
CpG islands
(count:1226)
Chromatin interactive
region (count:23)
LncRNA
region (count:40)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52900846-52901131	HepG2	liver:	n/a	n/a
2	BCLAF1	chr19:52900832-52901375	GM12878	blood:	n/a	n/a
3	BHLHE40	chr19:52900942-52901324	GM12878	blood:	n/a	n/a
4	CBX3	chr19:52900945-52901284	K562	blood:	n/a	n/a
5	CBX3	chr19:52900872-52901266	K562	blood:	n/a	n/a
6	CEBPB	chr19:52900001-52900200	HepG2	liver:	n/a	chr19:52900142-52900153
7	CEBPB	chr19:52900477-52900699	H1-hESC	embryonic stem cell:	n/a	chr19:52900622-52900635 chr19:52900622-52900633
8	CEBPB	chr19:52900506-52900786	HepG2	liver:	n/a	chr19:52900622-52900635 chr19:52900622-52900633
9	CHD1	chr19:52900901-52901048	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr19:52901004-52901064	GM12878	blood:	n/a	n/a
11	CHD2	chr19:52900605-52900664	GM12878	blood:	n/a	n/a
12	CHD2	chr19:52900941-52901401	GM12878	blood:	n/a	n/a
13	CHD2	chr19:52900929-52901173	HepG2	liver:	n/a	n/a
14	CREB1	chr19:52900793-52901346	HepG2	liver:	n/a	n/a
15	CTCF	chr19:52901400-52901550	SAEC	small airway:	n/a	n/a
16	CTCF	chr19:52894325-52894649	K562	blood:	n/a	n/a
17	CTCF	chr19:52901440-52901590	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr19:52902020-52902170	WERI-Rb-1	eye:	n/a	chr19:52902071-52902084
19	CTCF	chr19:52901480-52901630	AG04449	skin:	n/a	n/a
20	CTCF	chr19:52901440-52901590	GM12864	blood:	n/a	n/a
21	CTCF	chr19:52901460-52901610	HepG2	liver:	n/a	n/a
22	CTCF	chr19:52927611-52927688	GM10248	blood:	n/a	n/a
23	CTCF	chr19:52901440-52901590	HL-60	blood:	n/a	n/a
24	CTCF	chr19:52894500-52894650	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:52875208-52875250	GM20000	blood:	n/a	n/a
26	CTCF	chr19:52901360-52901510	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr19:52894431-52894651	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr19:52901380-52901530	GM12864	blood:	n/a	n/a
29	CTCF	chr19:52901504-52901537	MCF-7	breast:	n/a	n/a
30	CTCF	chr19:52894475-52894649	HepG2	liver:	n/a	n/a
31	CTCF	chr19:52901440-52901590	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr19:52894480-52894630	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr19:52901455-52901514	LNCaP	prostate:	n/a	n/a
34	CTCF	chr19:52901360-52901510	HRE	kidney:	n/a	n/a
35	CTCF	chr19:52901420-52901570	SAEC	small airway:	n/a	n/a
36	CTCF	chr19:52901460-52901610	GM12865	blood:	n/a	n/a
37	CTCF	chr19:52900320-52900470	HVMF	connective:	n/a	n/a
38	CTCF	chr19:52901400-52901550	HCFaa	heart:	n/a	n/a
39	CTCF	chr19:52901466-52901534	MCF-7	breast:	n/a	n/a
40	CTCF	chr19:52901980-52902130	SK-N-SH_RA	brain:	n/a	chr19:52902071-52902084
41	CTCF	chr19:52901440-52901590	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr19:52901400-52901550	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr19:52901460-52901610	HFF	foreskin:	n/a	n/a
44	CTCF	chr19:52894450-52894614	K562	blood:	n/a	n/a
45	CTCF	chr19:52894496-52894667	Medullo	brain:	n/a	n/a
46	CTCF	chr19:52894460-52894610	HPF	lung:	n/a	n/a
47	CTCF	chr19:52901460-52901610	HMF	breast:	n/a	n/a
48	CTCF	chr19:52901400-52901550	GM12870	blood:	n/a	n/a
49	CTCF	chr19:52894435-52894625	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:52894408-52894733	K562	blood:	n/a	n/a

(count:1226 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52900980-52901030	AG09309	skin:	n/a
2	chr19:52900927-52900977	A549	lung:	n/a
3	chr19:52901271-52901321	SK-N-SH	brain:	n/a
4	chr19:52900980-52901030	Caco-2	colon:	n/a
5	chr19:52900988-52901038	GM12891	blood:	n/a
6	chr19:52898170-52898220	ECC-1	luminal epithelium:	n/a
7	chr19:52900980-52901030	AG09309	skin:	n/a
8	chr19:52900927-52900977	A549	lung:	n/a
9	chr19:52901271-52901321	SK-N-SH	brain:	n/a
10	chr19:52900980-52901030	Caco-2	colon:	n/a
11	chr19:52900988-52901038	GM12891	blood:	n/a
12	chr19:52898170-52898220	ECC-1	luminal epithelium:	n/a
13	chr19:52900469-52900519	K562	blood:	n/a
14	chr19:52900882-52900932	HCF	heart:	n/a
15	chr19:52877446-52877496	NB4	blood:	n/a
16	chr19:52901124-52901174	ProgFib	skin:	n/a
17	chr19:52901431-52901481	HRPEpiC	eye:	n/a
18	chr19:52900974-52901024	T-47D	breast:	n/a
19	chr19:52900970-52901020	HepG2	liver:	n/a
20	chr19:52901271-52901321	Hela-S3	cervix:	n/a
21	chr19:52888958-52889008	HCPEpiC	choroid plexus:	n/a
22	chr19:52898170-52898220	SAEC	small airway:	n/a
23	chr19:52900974-52901024	HNPCEpiC	eye:	n/a
24	chr19:52901639-52901689	RPTEC	kidney:	n/a
25	chr19:52905427-52905477	GM19239	blood:	n/a
26	chr19:52877446-52877496	GM12878	blood:	n/a
27	chr19:52888958-52889008	AG10803	skin:	n/a
28	chr19:52905427-52905477	HCM	heart:	n/a
29	chr19:52921300-52921350	HRCEpiC	kidney:	n/a
30	chr19:52901639-52901689	HMEC	breast:	n/a
31	chr19:52888958-52889008	BJ	skin:	n/a
32	chr19:52900988-52901038	HCPEpiC	choroid plexus:	n/a
33	chr19:52901271-52901321	U87	brain:	n/a
34	chr19:52900469-52900519	AoSMC	blood vessel:	n/a
35	chr19:52921300-52921350	HCF	heart:	n/a
36	chr19:52900988-52901038	GM12892	blood:	n/a
37	chr19:52901124-52901174	T-47D	breast:	n/a
38	chr19:52900970-52901020	SK-N-SH	brain:	n/a
39	chr19:52900914-52900964	AG10803	skin:	n/a
40	chr19:52900970-52901020	ECC-1	luminal epithelium:	n/a
41	chr19:52898170-52898220	PANC-1	pancreas:	n/a
42	chr19:52900914-52900964	MCF-7	breast:	n/a
43	chr19:52921300-52921350	T-47D	breast:	n/a
44	chr19:52900901-52900951	H1-hESC	embryonic stem cell:	embryo
45	chr19:52898170-52898220	SKMC	muscle:	n/a
46	chr19:52900882-52900932	IMR90	lung:	fetal
47	chr19:52905427-52905477	K562	blood:	n/a
48	chr19:52901639-52901689	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:52901307-52901357	SAEC	small airway:	n/a
50	chr19:52904218-52904268	HRCEpiC	kidney:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52899758..52902696-chr19:52903314..52905986,3	MCF-7	breast:
2	chr19:52875265..52876916-chr19:52889763..52892567,2	MCF-7	breast:
3	chr19:52918301..52920285-chr19:52922376..52925176,2	K562	blood:
4	chr19:52881938..52883510-chr19:52886057..52888201,2	K562	blood:
5	chr19:52918097..52920312-chr19:52920533..52923080,2	MCF-7	breast:
6	chr19:52901728..52903647-chr19:52912630..52914410,2	MCF-7	breast:
7	chr19:52918301..52920285-chr19:52922376..52925176,2	K562	blood:
8	chr19:52875265..52876916-chr19:52889763..52892567,2	MCF-7	breast:
9	chr19:52903104..52905523-chr19:52907320..52908934,2	K562	blood:
10	chr19:52908988..52911904-chr19:52916328..52918022,2	K562	blood:
11	chr19:52839189..52842101-chr19:52900021..52902093,2	MCF-7	breast:
12	chr19:52901728..52903647-chr19:52912630..52914410,2	MCF-7	breast:
13	chr19:52881938..52883510-chr19:52886057..52888201,2	K562	blood:
14	chr19:52894967..52896731-chr19:52899629..52901485,2	K562	blood:
15	chr19:52893005..52896642-chr19:52900305..52903556,3	MCF-7	breast:
16	chr19:52893005..52896642-chr19:52900305..52903556,3	MCF-7	breast:
17	chr19:52894785..52896519-chr19:52899562..52901653,2	MCF-7	breast:
18	chr19:52918097..52920312-chr19:52920533..52923080,2	MCF-7	breast:
19	chr19:52899758..52902696-chr19:52903314..52905986,3	MCF-7	breast:
20	chr19:52771349..52773088-chr19:52900874..52902470,2	MCF-7	breast:
21	chr19:52894785..52896519-chr19:52899562..52901653,2	MCF-7	breast:
22	chr19:52771473..52773658-chr19:52872286..52874915,2	MCF-7	breast:
23	chr19:52908988..52911904-chr19:52916328..52918022,2	K562	blood:

(count:40 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF534-2	chr19:52914625-52917621	NONHSAT067551
2	lnc-ZNF83-1	chr19:52900715-52900922	ENSG00000269834.1
3	lnc-ZNF83-1	chr19:52899863-52900005	ENSG00000269834.1
4	lnc-ZNF534-2	chr19:52918192-52918292	NONHSAT067551
5	lnc-ZNF880-1	chr19:52904938-52905006	NONHSAT067550
6	lnc-ZNF880-1	chr19:52901620-52901872	NONHSAT067550
7	lnc-ZNF83-1	chr19:52899618-52899752	ENSG00000246015
8	lnc-ZNF83-1	chr19:52897584-52899003	ENSG00000246015
9	lnc-ZNF83-1	chr19:52892095-52892698	NONHSAT067540
10	lnc-ZNF880-1	chr19:52905200-52905270	NONHSAT067550
11	lnc-ZNF83-1	chr19:52899569-52899752	ENSG00000269834.1
12	lnc-ZNF83-1	chr19:52898972-52899003	ENSG00000246015
13	lnc-ZNF83-1	chr19:52899569-52899752	ENSG00000246015
14	lnc-ZNF83-1	chr19:52898044-52898100	ENSG00000269834.1
15	lnc-ZNF83-1	chr19:52897580-52899003	NONHSAT067545
16	lnc-ZNF83-1	chr19:52892095-52894826	ENSG00000269834.1
17	lnc-ZNF83-1	chr19:52900715-52901019	ENSG00000269834.1
18	lnc-ZNF83-1	chr19:52900715-52901010	NONHSAT067546
19	lnc-ZNF83-1	chr19:52899863-52900005	ENSG00000269834.1
20	lnc-ZNF83-1	chr19:52892272-52892556	ENSG00000269834.1
21	lnc-ZNF880-1	chr19:52901153-52901273	NONHSAT067550
22	lnc-ZNF83-1	chr19:52900715-52901010	ENSG00000269834.1
23	lnc-ZNF83-1	chr19:52900448-52900520	ENSG00000269834.1
24	lnc-ZNF83-1	chr19:52898780-52899003	ENSG00000269834.1
25	lnc-ZNF83-1	chr19:52900715-52901010	ENSG00000246015
26	lnc-ZNF83-1	chr19:52898851-52899003	ENSG00000269834.1
27	lnc-ZNF83-1	chr19:52899863-52900005	ENSG00000246015
28	lnc-ZNF83-1	chr19:52900715-52901010	NONHSAT067545
29	lnc-ZNF83-1	chr19:52900715-52901010	NONHSAT067544
30	lnc-ZNF83-1	chr19:52899863-52900005	NONHSAT067545
31	lnc-ZNF83-1	chr19:52899618-52899752	ENSG00000269834.1
32	lnc-ZNF83-1	chr19:52899569-52899752	NONHSAT067545
33	lnc-ZNF83-1	chr19:52900715-52900985	ENSG00000246015
34	lnc-ZNF83-1	chr19:52897580-52899003	NONHSAT067546
35	lnc-ZNF83-1	chr19:52897580-52899003	NONHSAT067544
36	lnc-ZNF83-1	chr19:52899618-52899752	NONHSAT067544
37	lnc-ZNF83-1	chr19:52892095-52896456	ENSG00000246015
38	lnc-ZNF534-2	chr19:52918377-52918606	NONHSAT067551
39	lnc-ZNF83-1	chr19:52899892-52900520	ENSG00000269834.1
40	lnc-ZNF83-1	chr19:52892095-52893679	ENSG00000246015

No data

Variant related genes	Relation type
ZNF528	TF binding region
ZNF534	TF binding region
ENSG00000269834	TF binding region
ZNF528	CpG island
ZNF534	CpG island
ENSG00000269834	CpG island
ENSG00000269834	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000167555	chromatin interactions
ENSG00000167554	chromatin interactions
CDC23	miRNA target sites
DLL1	miRNA target sites
KIAA0196	miRNA target sites
TPT1	miRNA target sites
BMP1	miRNA target sites
NASP	miRNA target sites
ULBP2	miRNA target sites

Extended variants
information (count: 2475 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2475 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12976033	chr19:52874140-52874141	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185557448	chr19:52874159-52874160	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77041130	chr19:52874183-52874184	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531707875	chr19:52874204-52874205	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543423360	chr19:52874231-52874232	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12978149	chr19:52874234-52874235	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529505275	chr19:52874244-52874245	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189924829	chr19:52874263-52874264	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565802984	chr19:52874283-52874284	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565931630	chr19:52874289-52874290	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12976751	chr19:52874293-52874294	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs180970174	chr19:52874311-52874312	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542226495	chr19:52874341-52874342	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569681624	chr19:52874343-52874344	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537174684	chr19:52874386-52874387	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151104123	chr19:52874449-52874450	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112018712	chr19:52874452-52874453	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185890736	chr19:52874469-52874470	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553342726	chr19:52874476-52874477	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192462357	chr19:52874499-52874500	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544903261	chr19:52874593-52874594	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183847434	chr19:52874602-52874603	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534802337	chr19:52874607-52874608	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76063983	chr19:52874615-52874616	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372908460	chr19:52874631-52874632	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188676152	chr19:52874649-52874650	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561702270	chr19:52874653-52874654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529295350	chr19:52874660-52874661	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112993145	chr19:52874684-52874685	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141096970	chr19:52874745-52874746	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559656962	chr19:52874775-52874776	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190345905	chr19:52874785-52874786	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551656363	chr19:52874796-52874797	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149863048	chr19:52874801-52874802	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs118030791	chr19:52874808-52874809	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76474836	chr19:52874834-52874835	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140539140	chr19:52874866-52874867	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113770280	chr19:52874904-52874905	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73934440	chr19:52874920-52874921	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546045814	chr19:52874975-52874976	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114032942	chr19:52875010-52875011	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556837126	chr19:52875029-52875030	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111399800	chr19:52875125-52875126	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140318495	chr19:52875180-52875181	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564477678	chr19:52875213-52875214	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555481534	chr19:52875219-52875220	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75522427	chr19:52875239-52875240	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143551394	chr19:52875304-52875305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35013502	chr19:52875314-52875315	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186903733	chr19:52875334-52875335	Weak transcription ZNF genes & repeats Strong transcription	n/a	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
Adrenocortical carcinoma	18281524	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:1861 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52865200-52875400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:52866600-52875400	ZNF genes & repeats	Liver	Liver
3	chr19:52871200-52876400	Weak transcription	Dnd41	blood
4	chr19:52872600-52874200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:52872600-52874400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:52872600-52874400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:52872600-52874400	Active TSS	Fetal Kidney	kidney
8	chr19:52872600-52874800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:52872800-52874200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:52872800-52874200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:52872800-52874200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr19:52872800-52874200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:52872800-52874200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:52872800-52874200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:52872800-52874200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:52872800-52874200	Active TSS	Brain Cingulate Gyrus	brain
17	chr19:52872800-52874200	ZNF genes & repeats	Esophagus	oesophagus
18	chr19:52872800-52874200	Active TSS	Ovary	ovary
19	chr19:52872800-52874200	Active TSS	Psoas Muscle	Psoas
20	chr19:52872800-52874200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr19:52872800-52874200	Active TSS	HMEC	breast
22	chr19:52872800-52874200	Active TSS	HSMM	muscle
23	chr19:52872800-52874400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:52872800-52874400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr19:52872800-52874400	Active TSS	Muscle Satellite Cultured Cells	--
26	chr19:52872800-52874400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:52872800-52874400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr19:52872800-52874400	Active TSS	NH-A	brain
29	chr19:52872800-52874400	Active TSS	NHDF-Ad	bronchial
30	chr19:52872800-52874600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr19:52872800-52874600	ZNF genes & repeats	GM12878-XiMat	blood
32	chr19:52872800-52875000	ZNF genes & repeats	Fetal Thymus	thymus
33	chr19:52872800-52875200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:52872800-52875200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr19:52872800-52875400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:52873200-52874200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:52873200-52874200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:52873200-52875200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:52873400-52874200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:52873400-52874200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr19:52873400-52874200	Flanking Active TSS	HUVEC	blood vessel
42	chr19:52873400-52874400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr19:52873400-52875400	ZNF genes & repeats	Placenta	Placenta
44	chr19:52873600-52874400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
45	chr19:52873600-52874400	Flanking Active TSS	Fetal Brain Male	brain
46	chr19:52873600-52874600	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr19:52873600-52874800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr19:52873600-52875200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr19:52873800-52874200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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