Variant report

Variant	nsv515862
Chromosome Location	chr19:53602953-53626513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:554)
CpG islands
(count:429)
Chromatin interactive
region (count:17)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53624883-53625151	HepG2	liver:	n/a	n/a
2	ATF2	chr19:53606497-53607018	GM12878	blood:	n/a	n/a
3	ATF3	chr19:53606544-53606749	K562	blood:	n/a	chr19:53606712-53606721
4	BACH1	chr19:53607015-53607178	K562	blood:	n/a	n/a
5	BACH1	chr19:53606550-53607222	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr19:53606356-53607144	GM12878	blood:	n/a	chr19:53606663-53606672
7	BCLAF1	chr19:53606828-53607327	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:53606021-53607112	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:53606496-53607106	K562	blood:	n/a	n/a
10	CBX3	chr19:53606495-53607294	K562	blood:	n/a	n/a
11	CCNT2	chr19:53606567-53607217	K562	blood:	n/a	n/a
12	CEBPB	chr19:53604884-53605062	K562	blood:	n/a	chr19:53604994-53605011
13	CEBPB	chr19:53612975-53613054	K562	blood:	n/a	n/a
14	CEBPD	chr19:53606339-53607235	K562	blood:	n/a	n/a
15	CHD1	chr19:53606365-53606565	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr19:53605620-53607121	GM12878	blood:	n/a	chr19:53606338-53606348
17	CHD1	chr19:53605155-53607496	IMR90	lung:	n/a	chr19:53606338-53606348
18	CHD2	chr19:53606624-53606810	HepG2	liver:	n/a	n/a
19	CHD2	chr19:53606410-53607157	GM12878	blood:	n/a	n/a
20	CHD2	chr19:53606942-53607168	K562	blood:	n/a	n/a
21	CHD2	chr19:53606569-53606802	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr19:53606469-53606501	K562	blood:	n/a	n/a
23	CHD2	chr19:53606419-53607232	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr19:53606433-53607089	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr19:53606450-53606985	A549	lung:	n/a	n/a
26	CREB1	chr19:53606391-53607205	K562	blood:	n/a	n/a
27	CREB1	chr19:53606415-53607268	HepG2	liver:	n/a	n/a
28	CREB1	chr19:53606581-53606800	A549	lung:	n/a	n/a
29	CREB1	chr19:53606393-53607249	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr19:53606521-53607254	GM12878	blood:	n/a	n/a
31	CTBP2	chr19:53606571-53607142	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:53606610-53606654	NHEK	skin:	n/a	n/a
33	CTCF	chr19:53606239-53606292	GM12878	blood:	n/a	n/a
34	CTCF	chr19:53606180-53606330	AG04449	skin:	n/a	chr19:53606223-53606236
35	CTCF	chr19:53606591-53606671	GM19239	blood:	n/a	n/a
36	CTCF	chr19:53606232-53606287	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:53616720-53616870	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr19:53606220-53606370	AG09319	gingival:	n/a	chr19:53606223-53606236
39	CTCF	chr19:53606533-53607030	GM12878	blood:	n/a	n/a
40	CTCF	chr19:53606411-53606595	K562	blood:	n/a	n/a
41	CTCF	chr19:53611781-53611861	GM13976	blood:	n/a	n/a
42	CTCF	chr19:53623018-53623081	GM10266	blood:	n/a	n/a
43	CTCF	chr19:53606666-53606696	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr19:53606140-53606290	HCPEpiC	choroid plexus:	n/a	chr19:53606223-53606236
45	CTCF	chr19:53614791-53614891	GM20000	blood:	n/a	n/a
46	CTCF	chr19:53606200-53606350	AG04449	skin:	n/a	chr19:53606223-53606236
47	CTCF	chr19:53606080-53606230	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr19:53606120-53606270	HRE	kidney:	n/a	chr19:53606223-53606236
49	CTCF	chr19:53606975-53607285	K562	blood:	n/a	n/a
50	CTCF	chr19:53606260-53606410	WI-38	lung:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53607021-53607071	AG04449	skin:	fetal
2	chr19:53607021-53607071	SAEC	small airway:	n/a
3	chr19:53607021-53607071	AG04449	skin:	fetal
4	chr19:53607021-53607071	SAEC	small airway:	n/a
5	chr19:53606538-53606588	GM12878	blood:	n/a
6	chr19:53606340-53606390	PFSK-1	brain:	n/a
7	chr19:53619086-53619136	HRE	kidney:	n/a
8	chr19:53606654-53606704	MCF-7	breast:	n/a
9	chr19:53607009-53607059	PANC-1	pancreas:	n/a
10	chr19:53607009-53607059	HCPEpiC	choroid plexus:	n/a
11	chr19:53606654-53606704	NB4	blood:	n/a
12	chr19:53605221-53605271	PFSK-1	brain:	n/a
13	chr19:53607009-53607059	AoSMC	blood vessel:	n/a
14	chr19:53619086-53619136	HAEpiC	amniotic membrane:	n/a
15	chr19:53607021-53607071	GM12878	blood:	n/a
16	chr19:53605221-53605271	NT2-D1	testis:	n/a
17	chr19:53607021-53607071	BJ	skin:	n/a
18	chr19:53606340-53606390	HMEC	breast:	n/a
19	chr19:53607021-53607071	AG09309	skin:	n/a
20	chr19:53606538-53606588	AG10803	skin:	n/a
21	chr19:53619086-53619136	HUVEC	blood vessel:	n/a
22	chr19:53619086-53619136	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:53606340-53606390	ovcar-3	ovarian:	n/a
24	chr19:53605221-53605271	Hela-S3	cervix:	n/a
25	chr19:53607021-53607071	SK-N-SH	brain:	n/a
26	chr19:53607021-53607071	GM12891	blood:	n/a
27	chr19:53606654-53606704	HAEpiC	amniotic membrane:	n/a
28	chr19:53607009-53607059	AG09309	skin:	n/a
29	chr19:53606340-53606390	Hela-S3	cervix:	n/a
30	chr19:53607021-53607071	BE2_C	brain:	n/a
31	chr19:53607021-53607071	GM19239	blood:	n/a
32	chr19:53607009-53607059	HL-60	blood:	n/a
33	chr19:53607009-53607059	GM12891	blood:	n/a
34	chr19:53606538-53606588	HRCEpiC	kidney:	n/a
35	chr19:53606654-53606704	PANC-1	pancreas:	n/a
36	chr19:53606340-53606390	K562	blood:	n/a
37	chr19:53606340-53606390	BJ	skin:	n/a
38	chr19:53607009-53607059	MCF-7	breast:	n/a
39	chr19:53606340-53606390	RPTEC	kidney:	n/a
40	chr19:53607021-53607071	Caco-2	colon:	n/a
41	chr19:53606340-53606390	SKMC	muscle:	n/a
42	chr19:53605221-53605271	HCPEpiC	choroid plexus:	n/a
43	chr19:53605221-53605271	Caco-2	colon:	n/a
44	chr19:53607009-53607059	PrEC	prostate:	n/a
45	chr19:53605221-53605271	SK-N-MC	brain:	n/a
46	chr19:53606340-53606390	HAEpiC	amniotic membrane:	n/a
47	chr19:53607021-53607071	HNPCEpiC	eye:	n/a
48	chr19:53619086-53619136	AG04449	skin:	fetal
49	chr19:53606340-53606390	T-47D	breast:	n/a
50	chr19:53607021-53607071	SKMC	muscle:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
2	chr19:52691998..52694919-chr19:53605403..53608321,3	K562	blood:
3	chr19:53603113..53604676-chr19:53605160..53608027,2	MCF-7	breast:
4	chr19:53445011..53447703-chr19:53608056..53610253,2	MCF-7	breast:
5	chr19:53601090..53603099-chr19:53630653..53632192,2	MCF-7	breast:
6	chr19:53605891..53607584-chr19:58896314..58898154,2	MCF-7	breast:
7	chr19:53610363..53612627-chr19:53660815..53663368,2	K562	blood:
8	chr19:53580105..53582342-chr19:53607361..53608967,2	MCF-7	breast:
9	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
10	chr19:53604512..53608513-chr19:53609307..53612794,4	MCF-7	breast:
11	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
12	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
13	chr19:53618140..53620226-chr19:53631544..53634250,2	MCF-7	breast:
14	chr19:53606146..53606673-chr6:34759631..34760361,2	Hela-S3	cervix:
15	chr19:53605668..53607608-chr19:53634404..53636647,2	MCF-7	breast:
16	chr19:53461518..53463448-chr19:53612422..53614320,2	K562	blood:
17	chr1:161171615..161172146-chr19:53606421..53607387,2	Hela-S3	cervix:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF347-2	chr19:53619037-53619177	NONHSAT067635
2	lnc-ZNF347-2	chr19:53618987-53619177	NONHSAT067633
3	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067636
4	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067634
5	lnc-ZNF347-2	chr19:53619513-53619686	NONHSAT067636
6	lnc-ZNF347-2	chr19:53612991-53613161	NONHSAT067631
7	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067633
8	lnc-ZNF347-2	chr19:53618957-53619064	NONHSAT067632
9	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067631
10	lnc-ZNF347-2	chr19:53619010-53619064	NONHSAT067634
11	lnc-ZNF415-2	chr19:53606518-53606631	NONHSAT067624
12	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067634
13	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067635
14	lnc-ZNF347-2	chr19:53612860-53613161	NONHSAT067630
15	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067632
16	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067633
17	lnc-ZNF415-2	chr19:53606518-53606580	NONHSAT067628
18	lnc-ZNF347-2	chr19:53625657-53625865	NONHSAT067630
19	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067635
20	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067632
21	lnc-ZNF347-2	chr19:53618511-53618585	NONHSAT067632
22	lnc-VN1R2-9	chr19:53611890-53613152	NONHSAT067620

No data

Variant related genes	Relation type
ZNF160	TF binding region
ZNF160	CpG island
ENSG00000158864	chromatin interactions
ENSG00000105568	chromatin interactions
ENSG00000065060	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000170949	chromatin interactions
ENSG00000197937	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000170954	chromatin interactions
ENSG00000083845	chromatin interactions

Extended variants
information (count: 1048 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1048 , 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	rs8102799	chr19:53602953-53602954	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564092750	chr19:53602955-53602956	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs545989778	chr19:53602960-53602961	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs372276146	chr19:53603016-53603017	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs549879504	chr19:53603032-53603033	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs73935238	chr19:53603036-53603037	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568177409	chr19:53603089-53603090	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs530363790	chr19:53603131-53603132	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6509725	chr19:53603145-53603146	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114351730	chr19:53603148-53603149	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs180812795	chr19:53603149-53603150	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187414703	chr19:53603155-53603156	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144343140	chr19:53603168-53603169	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190862224	chr19:53603254-53603255	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115105886	chr19:53603304-53603305	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574545271	chr19:53603308-53603309	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535681785	chr19:53603320-53603321	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541783831	chr19:53603396-53603397	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183100395	chr19:53603412-53603413	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539688363	chr19:53603469-53603470	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572340598	chr19:53603516-53603517	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12979992	chr19:53603590-53603591	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs146711384	chr19:53603601-53603602	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576013154	chr19:53603616-53603617	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374283177	chr19:53603624-53603625	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539479335	chr19:53603631-53603632	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35433418	chr19:53603634-53603635	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370389282	chr19:53603635-53603636	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34716452	chr19:53603638-53603639	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543146425	chr19:53603643-53603644	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561859918	chr19:53603659-53603660	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528987196	chr19:53603718-53603719	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187396369	chr19:53603720-53603721	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190397351	chr19:53603731-53603732	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373364714	chr19:53603732-53603733	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28368410	chr19:53603787-53603788	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs386810641	chr19:53603809-53603810	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570735492	chr19:53603851-53603852	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372566016	chr19:53603858-53603859	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555414095	chr19:53603864-53603865	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142658429	chr19:53603874-53603875	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568494367	chr19:53603891-53603892	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113144791	chr19:53603901-53603902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs16984442	chr19:53603912-53603913	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs16984443	chr19:53603917-53603918	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572304985	chr19:53603929-53603930	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542369689	chr19:53603944-53603945	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs16984444	chr19:53603952-53603953	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558077653	chr19:53603958-53603959	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575935939	chr19:53603971-53603972	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	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
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
2	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
3	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
4	chr19:53586400-53603400	Strong transcription	Primary T cells from cord blood	blood
5	chr19:53588400-53603400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:53589200-53604800	Weak transcription	Fetal Brain Male	brain
7	chr19:53589600-53604800	Weak transcription	Small Intestine	intestine
8	chr19:53590400-53605000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:53592800-53604800	Weak transcription	HUVEC	blood vessel
10	chr19:53594400-53603400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:53594400-53605200	Weak transcription	Fetal Lung	lung
12	chr19:53594600-53604800	Weak transcription	Fetal Kidney	kidney
13	chr19:53594600-53604800	Weak transcription	NHEK	skin
14	chr19:53595200-53603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:53595200-53604000	Weak transcription	Pancreas	Pancrea
16	chr19:53596600-53603200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr19:53597600-53604800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr19:53597800-53604800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:53597800-53604800	Weak transcription	NH-A	brain
20	chr19:53598800-53604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:53599000-53604800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:53599000-53604800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:53599000-53604800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:53599000-53604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:53599000-53604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:53599000-53604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:53599000-53604800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:53599000-53604800	Weak transcription	HSMM	muscle
29	chr19:53599000-53605000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:53599000-53605400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:53599200-53604800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:53599200-53604800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:53600000-53603200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:53600400-53603400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr19:53600600-53603400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:53600600-53603400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr19:53600600-53603400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr19:53600600-53603400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:53600600-53603600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:53600600-53603800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:53600800-53603000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:53600800-53603000	Strong transcription	Dnd41	blood
43	chr19:53600800-53603200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:53600800-53603200	Strong transcription	Liver	Liver
45	chr19:53600800-53603200	Strong transcription	Colonic Mucosa	Colon
46	chr19:53600800-53603200	Strong transcription	Fetal Muscle Leg	muscle
47	chr19:53600800-53603200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr19:53600800-53603200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr19:53600800-53603200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr19:53600800-53603400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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