Variant report

Variant	nsv580072
Chromosome Location	chr19:53600845-53627777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:569)
CpG islands
(count:490)
Chromatin interactive
region (count:20)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:569 , 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	chr19:53606550-53607222	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:53607015-53607178	K562	blood:	n/a	n/a
6	BCLAF1	chr19:53606828-53607327	GM12878	blood:	n/a	n/a
7	BCLAF1	chr19:53606356-53607144	GM12878	blood:	n/a	chr19:53606663-53606672
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	chr19:53605620-53607121	GM12878	blood:	n/a	chr19:53606338-53606348
16	CHD1	chr19:53605155-53607496	IMR90	lung:	n/a	chr19:53606338-53606348
17	CHD1	chr19:53606365-53606565	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr19:53606410-53607157	GM12878	blood:	n/a	n/a
19	CHD2	chr19:53606624-53606810	HepG2	liver:	n/a	n/a
20	CHD2	chr19:53606942-53607168	K562	blood:	n/a	n/a
21	CHD2	chr19:53606469-53606501	K562	blood:	n/a	n/a
22	CHD2	chr19:53606569-53606802	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr19:53606419-53607232	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr19:53606415-53607268	HepG2	liver:	n/a	n/a
25	CREB1	chr19:53606391-53607205	K562	blood:	n/a	n/a
26	CREB1	chr19:53606433-53607089	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr19:53606521-53607254	GM12878	blood:	n/a	n/a
28	CREB1	chr19:53606450-53606985	A549	lung:	n/a	n/a
29	CREB1	chr19:53606581-53606800	A549	lung:	n/a	n/a
30	CREB1	chr19:53606393-53607249	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr19:53606571-53607142	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:53606140-53606290	HCPEpiC	choroid plexus:	n/a	chr19:53606223-53606236
33	CTCF	chr19:53606975-53607285	K562	blood:	n/a	n/a
34	CTCF	chr19:53606591-53606671	GM19239	blood:	n/a	n/a
35	CTCF	chr19:53606080-53606230	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr19:53606232-53606287	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:53606260-53606410	WI-38	lung:	n/a	n/a
38	CTCF	chr19:53606610-53606654	NHEK	skin:	n/a	n/a
39	CTCF	chr19:53614791-53614891	GM20000	blood:	n/a	n/a
40	CTCF	chr19:53606060-53606210	BJ	skin:	n/a	n/a
41	CTCF	chr19:53606533-53607030	GM12878	blood:	n/a	n/a
42	CTCF	chr19:53606180-53606330	AG04449	skin:	n/a	chr19:53606223-53606236
43	CTCF	chr19:53611781-53611861	GM13976	blood:	n/a	n/a
44	CTCF	chr19:53616720-53616870	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr19:53606120-53606270	HRE	kidney:	n/a	chr19:53606223-53606236
46	CTCF	chr19:53606239-53606292	GM12878	blood:	n/a	n/a
47	CTCF	chr19:53623018-53623081	GM10266	blood:	n/a	n/a
48	CTCF	chr19:53606220-53606370	AG09319	gingival:	n/a	chr19:53606223-53606236
49	CTCF	chr19:53606411-53606595	K562	blood:	n/a	n/a
50	CTCF	chr19:53606666-53606696	Spleen_OC	spleen:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53607009-53607059	Hepatocyte	liver:	n/a
2	chr19:53606340-53606390	Hepatocyte	liver:	n/a
3	chr19:53607009-53607059	Hepatocyte	liver:	n/a
4	chr19:53606340-53606390	Hepatocyte	liver:	n/a
5	chr19:53606340-53606390	AG04449	skin:	fetal
6	chr19:53607021-53607071	HCPEpiC	choroid plexus:	n/a
7	chr19:53607021-53607071	GM19239	blood:	n/a
8	chr19:53602096-53602146	AG04449	skin:	fetal
9	chr19:53602096-53602146	IMR90	lung:	fetal
10	chr19:53606654-53606704	Jurkat	blood:	n/a
11	chr19:53606654-53606704	SKMC	muscle:	n/a
12	chr19:53605221-53605271	GM06990	blood:	n/a
13	chr19:53605221-53605271	H1-hESC	embryonic stem cell:	embryo
14	chr19:53602096-53602146	H1-hESC	embryonic stem cell:	embryo
15	chr19:53607021-53607071	HUVEC	blood vessel:	n/a
16	chr19:53602096-53602146	HCF	heart:	n/a
17	chr19:53602096-53602146	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:53606538-53606588	Hela-S3	cervix:	n/a
19	chr19:53605221-53605271	HUVEC	blood vessel:	n/a
20	chr19:53606340-53606390	SAEC	small airway:	n/a
21	chr19:53619086-53619136	Caco-2	colon:	n/a
22	chr19:53602096-53602146	HEEpiC	esophagus:	n/a
23	chr19:53606538-53606588	Jurkat	blood:	n/a
24	chr19:53605221-53605271	HCPEpiC	choroid plexus:	n/a
25	chr19:53606654-53606704	CMK	blood:	n/a
26	chr19:53605221-53605271	SK-N-SH_RA	brain:	n/a
27	chr19:53607021-53607071	HCM	heart:	n/a
28	chr19:53607021-53607071	HNPCEpiC	eye:	n/a
29	chr19:53606538-53606588	SAEC	small airway:	n/a
30	chr19:53602096-53602146	NB4	blood:	n/a
31	chr19:53607009-53607059	AoSMC	blood vessel:	n/a
32	chr19:53606340-53606390	SK-N-SH	brain:	n/a
33	chr19:53606340-53606390	Hela-S3	cervix:	n/a
34	chr19:53606538-53606588	H1-hESC	embryonic stem cell:	embryo
35	chr19:53606538-53606588	HMEC	breast:	n/a
36	chr19:53606654-53606704	RPTEC	kidney:	n/a
37	chr19:53605221-53605271	RPTEC	kidney:	n/a
38	chr19:53607009-53607059	Jurkat	blood:	n/a
39	chr19:53607009-53607059	A549	lung:	n/a
40	chr19:53605221-53605271	SK-N-MC	brain:	n/a
41	chr19:53605221-53605271	Hepatocyte	liver:	n/a
42	chr19:53619086-53619136	MCF-7	breast:	n/a
43	chr19:53606340-53606390	HCPEpiC	choroid plexus:	n/a
44	chr19:53602096-53602146	RPTEC	kidney:	n/a
45	chr19:53602096-53602146	HEK293	kidney:	embryo
46	chr19:53605221-53605271	NH-A	brain:	n/a
47	chr19:53607009-53607059	AG10803	skin:	n/a
48	chr19:53606538-53606588	HRE	kidney:	n/a
49	chr19:53619086-53619136	Hela-S3	cervix:	n/a
50	chr19:53602096-53602146	HAEpiC	amniotic membrane:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161171615..161172146-chr19:53606421..53607387,2	Hela-S3	cervix:
2	chr19:53445011..53447703-chr19:53608056..53610253,2	MCF-7	breast:
3	chr19:53598253..53601018-chr19:53604672..53606722,3	MCF-7	breast:
4	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
5	chr19:53603113..53604676-chr19:53605160..53608027,2	MCF-7	breast:
6	chr19:53600011..53602788-chr19:53603096..53607332,6	MCF-7	breast:
7	chr19:53618140..53620226-chr19:53631544..53634250,2	MCF-7	breast:
8	chr19:53596128..53598162-chr19:53599456..53601173,2	MCF-7	breast:
9	chr19:53605891..53607584-chr19:58896314..58898154,2	MCF-7	breast:
10	chr19:53610363..53612627-chr19:53660815..53663368,2	K562	blood:
11	chr19:53461518..53463448-chr19:53612422..53614320,2	K562	blood:
12	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
13	chr19:53606146..53606673-chr6:34759631..34760361,2	Hela-S3	cervix:
14	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
15	chr19:53604512..53608513-chr19:53609307..53612794,4	MCF-7	breast:
16	chr19:53580105..53582342-chr19:53607361..53608967,2	MCF-7	breast:
17	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
18	chr19:52691998..52694919-chr19:53605403..53608321,3	K562	blood:
19	chr19:53601090..53603099-chr19:53630653..53632192,2	MCF-7	breast:
20	chr19:53605668..53607608-chr19:53634404..53636647,2	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF347-2	chr19:53619037-53619177	NONHSAT067635
2	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067631
3	lnc-ZNF347-2	chr19:53626754-53626908	NONHSAT067633
4	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067633
5	lnc-ZNF347-2	chr19:53618957-53619064	NONHSAT067632
6	lnc-ZNF347-2	chr19:53612860-53613161	NONHSAT067630
7	lnc-ZNF347-2	chr19:53618511-53618585	NONHSAT067632
8	lnc-ZNF347-2	chr19:53618987-53619177	NONHSAT067633
9	lnc-ZNF347-2	chr19:53619010-53619064	NONHSAT067634
10	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067632
11	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067632
12	lnc-ZNF415-2	chr19:53606518-53606631	NONHSAT067624
13	lnc-VN1R2-9	chr19:53611890-53613152	NONHSAT067620
14	lnc-ZNF347-2	chr19:53627046-53627159	NONHSAT067632
15	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067634
16	lnc-ZNF347-2	chr19:53619513-53619686	NONHSAT067636
17	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067636
18	lnc-ZNF347-2	chr19:53612991-53613161	NONHSAT067631
19	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067633
20	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067635
21	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067635
22	lnc-ZNF347-2	chr19:53625657-53625865	NONHSAT067630
23	lnc-ZNF415-2	chr19:53606518-53606580	NONHSAT067628
24	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067634

No data

Variant related genes	Relation type
ZNF415	TF binding region
ZNF160	TF binding region
ZNF415	CpG island
ZNF160	CpG island
ENSG00000170949	chromatin interactions
ENSG00000083845	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000065060	chromatin interactions
ENSG00000158864	chromatin interactions
ENSG00000197937	chromatin interactions
ENSG00000105568	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000170954	chromatin interactions
ENSG00000167766	chromatin interactions

Extended variants
information (count: 1231 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4801954	chr19:53600845-53600846	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537370648	chr19:53600857-53600858	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557099206	chr19:53600876-53600877	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564141737	chr19:53600927-53600928	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376115626	chr19:53600961-53600962	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546480310	chr19:53600978-53600979	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185680191	chr19:53601006-53601007	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532754227	chr19:53601030-53601031	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544774443	chr19:53601061-53601062	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538549314	chr19:53601117-53601118	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556509364	chr19:53601131-53601132	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs8102155	chr19:53601165-53601166	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573020696	chr19:53601166-53601167	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11670364	chr19:53601172-53601173	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs55726167	chr19:53601231-53601232	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73935235	chr19:53601252-53601253	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553616358	chr19:53601308-53601309	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs578238387	chr19:53601409-53601410	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10406237	chr19:53601414-53601415	Weak transcription Genic enhancers 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
20	rs527652602	chr19:53601423-53601424	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62115442	chr19:53601426-53601427	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563667171	chr19:53601492-53601493	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7249288	chr19:53601493-53601494	Weak transcription Genic enhancers 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
24	rs543103988	chr19:53601500-53601501	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561265331	chr19:53601525-53601526	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528572922	chr19:53601541-53601542	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10407043	chr19:53601649-53601650	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs564757574	chr19:53601704-53601705	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532237061	chr19:53601723-53601724	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77096174	chr19:53601736-53601737	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537690855	chr19:53601739-53601740	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550493777	chr19:53601740-53601741	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs57142738	chr19:53601757-53601758	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115954730	chr19:53601773-53601774	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs60317521	chr19:53601774-53601775	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190540098	chr19:53601781-53601782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112563812	chr19:53601784-53601785	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533879828	chr19:53601786-53601787	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553577283	chr19:53601787-53601788	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs578227282	chr19:53601790-53601791	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146737570	chr19:53601793-53601794	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2913988	chr19:53601798-53601799	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557398722	chr19:53601799-53601800	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7259791	chr19:53601823-53601824	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575585066	chr19:53601837-53601838	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542613936	chr19:53601886-53601887	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73935236	chr19:53601893-53601894	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561337266	chr19:53601896-53601897	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181745025	chr19:53601897-53601898	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs386810640	chr19:53601927-53601928	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	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:1434 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
2	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
4	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
5	chr19:53586400-53603400	Strong transcription	Primary T cells from cord blood	blood
6	chr19:53588200-53601200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:53588400-53603400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr19:53589200-53604800	Weak transcription	Fetal Brain Male	brain
9	chr19:53589600-53604800	Weak transcription	Small Intestine	intestine
10	chr19:53590400-53605000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:53592800-53604800	Weak transcription	HUVEC	blood vessel
12	chr19:53594400-53601000	Weak transcription	Primary B cells from cord blood	blood
13	chr19:53594400-53603400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:53594400-53605200	Weak transcription	Fetal Lung	lung
15	chr19:53594600-53604800	Weak transcription	Fetal Kidney	kidney
16	chr19:53594600-53604800	Weak transcription	NHEK	skin
17	chr19:53595000-53601000	Weak transcription	Aorta	Aorta
18	chr19:53595000-53601000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:53595000-53601000	Weak transcription	HMEC	breast
20	chr19:53595200-53601000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:53595200-53601000	Weak transcription	Gastric	stomach
22	chr19:53595200-53601000	Weak transcription	NHLF	lung
23	chr19:53595200-53601000	Weak transcription	Osteobl	bone
24	chr19:53595200-53601200	Weak transcription	Brain Angular Gyrus	brain
25	chr19:53595200-53601200	Weak transcription	Esophagus	oesophagus
26	chr19:53595200-53602600	Weak transcription	Brain Substantia Nigra	brain
27	chr19:53595200-53603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:53595200-53604000	Weak transcription	Pancreas	Pancrea
29	chr19:53596600-53603200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr19:53597000-53601600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:53597600-53604800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:53597800-53601000	Weak transcription	Placenta	Placenta
33	chr19:53597800-53604800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:53597800-53604800	Weak transcription	NH-A	brain
35	chr19:53598800-53601000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:53598800-53601000	Weak transcription	Brain Anterior Caudate	brain
37	chr19:53598800-53601000	Weak transcription	Fetal Stomach	stomach
38	chr19:53598800-53601000	Weak transcription	Left Ventricle	heart
39	chr19:53598800-53601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:53598800-53601200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:53598800-53604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:53599000-53601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr19:53599000-53601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:53599000-53601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:53599000-53601000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:53599000-53601000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:53599000-53604800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:53599000-53604800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:53599000-53604800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:53599000-53604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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