Variant report

Variant	nsv912348
Chromosome Location	chr19:53605047-53632896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:586)
CpG islands
(count:488)
Chromatin interactive
region (count:17)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:586 , 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	chr19:53606496-53607106	K562	blood:	n/a	n/a
9	BHLHE40	chr19:53606021-53607112	GM12878	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	chr19:53630498-53630646	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:53604884-53605062	K562	blood:	n/a	chr19:53604994-53605011
14	CEBPB	chr19:53612975-53613054	K562	blood:	n/a	n/a
15	CEBPB	chr19:53630429-53630753	HepG2	liver:	n/a	n/a
16	CEBPD	chr19:53606339-53607235	K562	blood:	n/a	n/a
17	CHD1	chr19:53606365-53606565	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr19:53605620-53607121	GM12878	blood:	n/a	chr19:53606338-53606348
19	CHD1	chr19:53605155-53607496	IMR90	lung:	n/a	chr19:53606338-53606348
20	CHD2	chr19:53606410-53607157	GM12878	blood:	n/a	n/a
21	CHD2	chr19:53606469-53606501	K562	blood:	n/a	n/a
22	CHD2	chr19:53606419-53607232	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr19:53606624-53606810	HepG2	liver:	n/a	n/a
24	CHD2	chr19:53606569-53606802	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr19:53606942-53607168	K562	blood:	n/a	n/a
26	CREB1	chr19:53606391-53607205	K562	blood:	n/a	n/a
27	CREB1	chr19:53606433-53607089	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr19:53606393-53607249	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr19:53606450-53606985	A549	lung:	n/a	n/a
30	CREB1	chr19:53606415-53607268	HepG2	liver:	n/a	n/a
31	CREB1	chr19:53606581-53606800	A549	lung:	n/a	n/a
32	CREB1	chr19:53606521-53607254	GM12878	blood:	n/a	n/a
33	CTBP2	chr19:53606571-53607142	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:53606200-53606350	AG04449	skin:	n/a	chr19:53606223-53606236
35	CTCF	chr19:53606411-53606595	K562	blood:	n/a	n/a
36	CTCF	chr19:53606591-53606671	GM19239	blood:	n/a	n/a
37	CTCF	chr19:53606232-53606287	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:53606060-53606210	BJ	skin:	n/a	n/a
39	CTCF	chr19:53606533-53607030	GM12878	blood:	n/a	n/a
40	CTCF	chr19:53606239-53606292	GM12878	blood:	n/a	n/a
41	CTCF	chr19:53623018-53623081	GM10266	blood:	n/a	n/a
42	CTCF	chr19:53606140-53606290	HCPEpiC	choroid plexus:	n/a	chr19:53606223-53606236
43	CTCF	chr19:53606610-53606654	NHEK	skin:	n/a	n/a
44	CTCF	chr19:53614791-53614891	GM20000	blood:	n/a	n/a
45	CTCF	chr19:53611781-53611861	GM13976	blood:	n/a	n/a
46	CTCF	chr19:53616720-53616870	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr19:53632820-53632970	GM12869	blood:	n/a	n/a
48	CTCF	chr19:53606120-53606270	HRE	kidney:	n/a	chr19:53606223-53606236
49	CTCF	chr19:53606220-53606370	AG09319	gingival:	n/a	chr19:53606223-53606236
50	CTCF	chr19:53606180-53606330	AG04449	skin:	n/a	chr19:53606223-53606236

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53606340-53606390	AoSMC	blood vessel:	n/a
2	chr19:53607021-53607071	HEK293	kidney:	embryo
3	chr19:53619086-53619136	PANC-1	pancreas:	n/a
4	chr19:53606538-53606588	ProgFib	skin:	n/a
5	chr19:53606538-53606588	AG10803	skin:	n/a
6	chr19:53607021-53607071	SK-N-SH_RA	brain:	n/a
7	chr19:53605221-53605271	A549	lung:	n/a
8	chr19:53606340-53606390	HCT-116	colon:	n/a
9	chr19:53632221-53632271	AG09319	gingival:	n/a
10	chr19:53607009-53607059	BJ	skin:	n/a
11	chr19:53632221-53632271	NB4	blood:	n/a
12	chr19:53607009-53607059	NH-A	brain:	n/a
13	chr19:53606538-53606588	PANC-1	pancreas:	n/a
14	chr19:53607021-53607071	ovcar-3	ovarian:	n/a
15	chr19:53607009-53607059	AG04449	skin:	fetal
16	chr19:53607021-53607071	HRE	kidney:	n/a
17	chr19:53606654-53606704	HEEpiC	esophagus:	n/a
18	chr19:53605221-53605271	HNPCEpiC	eye:	n/a
19	chr19:53606654-53606704	NH-A	brain:	n/a
20	chr19:53632221-53632271	RPTEC	kidney:	n/a
21	chr19:53606340-53606390	U87	brain:	n/a
22	chr19:53607009-53607059	SK-N-SH	brain:	n/a
23	chr19:53605221-53605271	HRCEpiC	kidney:	n/a
24	chr19:53606538-53606588	ECC-1	luminal epithelium:	n/a
25	chr19:53619086-53619136	HUVEC	blood vessel:	n/a
26	chr19:53606538-53606588	AoSMC	blood vessel:	n/a
27	chr19:53606538-53606588	NHDF-neo	bronchial:	n/a
28	chr19:53607009-53607059	HPAEpiC	pulmonary alveolar:	n/a
29	chr19:53606340-53606390	AG10803	skin:	n/a
30	chr19:53606538-53606588	Hela-S3	cervix:	n/a
31	chr19:53632221-53632271	HNPCEpiC	eye:	n/a
32	chr19:53606654-53606704	HRCEpiC	kidney:	n/a
33	chr19:53632221-53632271	HCF	heart:	n/a
34	chr19:53606538-53606588	NB4	blood:	n/a
35	chr19:53619086-53619136	Jurkat	blood:	n/a
36	chr19:53619086-53619136	HL-60	blood:	n/a
37	chr19:53607009-53607059	AG04450	lung:	fetal
38	chr19:53619086-53619136	NB4	blood:	n/a
39	chr19:53619086-53619136	SK-N-SH_RA	brain:	n/a
40	chr19:53605221-53605271	NB4	blood:	n/a
41	chr19:53632221-53632271	PANC-1	pancreas:	n/a
42	chr19:53632221-53632271	HCM	heart:	n/a
43	chr19:53605221-53605271	H1-hESC	embryonic stem cell:	embryo
44	chr19:53606654-53606704	LNCaP	prostate:	n/a
45	chr19:53619086-53619136	HCPEpiC	choroid plexus:	n/a
46	chr19:53607021-53607071	AG09319	gingival:	n/a
47	chr19:53605221-53605271	HCPEpiC	choroid plexus:	n/a
48	chr19:53607021-53607071	SAEC	small airway:	n/a
49	chr19:53607009-53607059	HCM	heart:	n/a
50	chr19:53619086-53619136	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
2	chr19:53580105..53582342-chr19:53607361..53608967,2	MCF-7	breast:
3	chr19:53618140..53620226-chr19:53631544..53634250,2	MCF-7	breast:
4	chr19:53610363..53612627-chr19:53660815..53663368,2	K562	blood:
5	chr19:53605668..53607608-chr19:53634404..53636647,2	MCF-7	breast:
6	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
7	chr19:53605891..53607584-chr19:58896314..58898154,2	MCF-7	breast:
8	chr19:53461518..53463448-chr19:53612422..53614320,2	K562	blood:
9	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
10	chr19:53445011..53447703-chr19:53608056..53610253,2	MCF-7	breast:
11	chr19:52691998..52694919-chr19:53605403..53608321,3	K562	blood:
12	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
13	chr19:53632203..53634938-chr19:53638072..53639921,3	K562	blood:
14	chr19:53604512..53608513-chr19:53609307..53612794,4	MCF-7	breast:
15	chr19:53606146..53606673-chr6:34759631..34760361,2	Hela-S3	cervix:
16	chr1:161171615..161172146-chr19:53606421..53607387,2	Hela-S3	cervix:
17	chr19:53601090..53603099-chr19:53630653..53632192,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ZNF160	TF binding region
ZNF415	TF binding region
ZNF160	CpG island
ZNF415	CpG island
ENSG00000268613	chromatin interactions
ENSG00000065060	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000197937	chromatin interactions
ENSG00000083845	chromatin interactions
ENSG00000170954	chromatin interactions
ENSG00000105568	chromatin interactions
ENSG00000170949	chromatin interactions
ENSG00000158864	chromatin interactions

Extended variants
information (count: 1294 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1294 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17300167	chr19:53605047-53605048	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533466626	chr19:53605060-53605061	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4803049	chr19:53605066-53605067	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs553926387	chr19:53605079-53605080	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572440880	chr19:53605095-53605096	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs17372410	chr19:53605118-53605119	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150624369	chr19:53605160-53605161	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10607618	chr19:53605163-53605164	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138252336	chr19:53605234-53605235	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192424288	chr19:53605284-53605285	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534356903	chr19:53605304-53605305	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76201131	chr19:53605312-53605313	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577273212	chr19:53605314-53605315	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551247994	chr19:53605326-53605327	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371762275	chr19:53605334-53605335	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558314830	chr19:53605336-53605337	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543758227	chr19:53605340-53605341	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576588380	chr19:53605386-53605387	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184453629	chr19:53605387-53605388	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562406494	chr19:53605410-53605411	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540005200	chr19:53605427-53605428	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529620681	chr19:53605436-53605437	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562079348	chr19:53605522-53605523	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541387763	chr19:53605596-53605597	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559805600	chr19:53605610-53605611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs533433624	chr19:53605622-53605623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551619487	chr19:53605668-53605669	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs188932419	chr19:53605745-53605746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs192545966	chr19:53605868-53605869	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs549250093	chr19:53605896-53605897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs567183356	chr19:53605935-53605936	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs534608970	chr19:53605966-53605967	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs546152346	chr19:53605968-53605969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs570943471	chr19:53605969-53605970	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs184733161	chr19:53605988-53605989	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs556825066	chr19:53605993-53605994	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs576566864	chr19:53606005-53606006	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs189158389	chr19:53606034-53606035	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs12461386	chr19:53606036-53606037	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12459286	chr19:53606043-53606044	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541764063	chr19:53606060-53606061	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529382661	chr19:53606185-53606186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs34276240	chr19:53606192-53606193	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs71361300	chr19:53606209-53606210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs62115443	chr19:53606262-53606263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs559569184	chr19:53606282-53606283	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs545483384	chr19:53606302-53606303	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs533135259	chr19:53606312-53606313	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs563671958	chr19:53606340-53606341	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs531044032	chr19:53606401-53606402	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 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:1163 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
2	chr19:53594400-53605200	Weak transcription	Fetal Lung	lung
3	chr19:53599000-53605400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:53600800-53605600	ZNF genes & repeats	GM12878-XiMat	blood
5	chr19:53601600-53605200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:53601600-53605200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:53601600-53605400	Weak transcription	Aorta	Aorta
8	chr19:53602800-53605400	Weak transcription	Spleen	Spleen
9	chr19:53603000-53605600	Enhancers	Ovary	ovary
10	chr19:53603200-53605200	Weak transcription	Liver	Liver
11	chr19:53603200-53605400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:53603400-53605200	Enhancers	Left Ventricle	heart
13	chr19:53603400-53605400	Weak transcription	Placenta	Placenta
14	chr19:53603400-53605800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:53603600-53605200	Weak transcription	A549	lung
16	chr19:53603600-53605600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:53603600-53605600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:53604000-53605400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:53604200-53605800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr19:53604200-53607000	Active TSS	Fetal Intestine Small	intestine
21	chr19:53604600-53605400	Enhancers	Pancreas	Pancrea
22	chr19:53604600-53607600	Active TSS	Fetal Intestine Large	intestine
23	chr19:53604800-53605200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:53604800-53605200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr19:53604800-53605200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr19:53604800-53605200	Enhancers	Primary B cells from cord blood	blood
27	chr19:53604800-53605200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr19:53604800-53605200	Enhancers	Fetal Stomach	stomach
29	chr19:53604800-53605200	Enhancers	Psoas Muscle	Psoas
30	chr19:53604800-53605200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr19:53604800-53605200	Enhancers	NH-A	brain
32	chr19:53604800-53605400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr19:53604800-53605400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:53604800-53605400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:53604800-53605400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:53604800-53605400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:53604800-53605400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr19:53604800-53605400	Enhancers	Primary B cells from peripheral blood	blood
39	chr19:53604800-53605400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr19:53604800-53605400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:53604800-53605400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr19:53604800-53605400	Enhancers	Fetal Kidney	kidney
43	chr19:53604800-53605400	Enhancers	Fetal Muscle Trunk	muscle
44	chr19:53604800-53605400	Enhancers	Fetal Thymus	thymus
45	chr19:53604800-53605400	Enhancers	Gastric	stomach
46	chr19:53604800-53605400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr19:53604800-53605400	Enhancers	Rectal Smooth Muscle	rectum
48	chr19:53604800-53605400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr19:53604800-53605400	Enhancers	HUVEC	blood vessel
50	chr19:53604800-53605400	Transcr. at gene 5' and 3'	K562	blood

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