Variant report

Variant	nsv435700
Chromosome Location	chr19:53600132-53631014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:636)
CpG islands
(count:490)
Chromatin interactive
region (count:23)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr19:53606828-53607327	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	CEBPB	chr19:53630498-53630646	HepG2	liver:	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	chr19:53605155-53607496	IMR90	lung:	n/a	chr19:53606338-53606348
19	CHD1	chr19:53605620-53607121	GM12878	blood:	n/a	chr19:53606338-53606348
20	CHD2	chr19:53606624-53606810	HepG2	liver:	n/a	n/a
21	CHD2	chr19:53606419-53607232	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr19:53606469-53606501	K562	blood:	n/a	n/a
23	CHD2	chr19:53606410-53607157	GM12878	blood:	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	chr19:53606450-53606985	A549	lung:	n/a	n/a
27	CREB1	chr19:53606521-53607254	GM12878	blood:	n/a	n/a
28	CREB1	chr19:53606391-53607205	K562	blood:	n/a	n/a
29	CREB1	chr19:53606415-53607268	HepG2	liver:	n/a	n/a
30	CREB1	chr19:53606393-53607249	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr19:53606433-53607089	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr19:53606581-53606800	A549	lung:	n/a	n/a
33	CTBP2	chr19:53606571-53607142	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:53606666-53606696	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr19:53606239-53606292	GM12878	blood:	n/a	n/a
36	CTCF	chr19:53606533-53607030	GM12878	blood:	n/a	n/a
37	CTCF	chr19:53606080-53606230	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr19:53616720-53616870	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr19:53606140-53606290	HCPEpiC	choroid plexus:	n/a	chr19:53606223-53606236
40	CTCF	chr19:53606411-53606595	K562	blood:	n/a	n/a
41	CTCF	chr19:53606260-53606410	WI-38	lung:	n/a	n/a
42	CTCF	chr19:53629497-53629571	GM10266	blood:	n/a	n/a
43	CTCF	chr19:53606120-53606270	HRE	kidney:	n/a	chr19:53606223-53606236
44	CTCF	chr19:53606220-53606370	AG09319	gingival:	n/a	chr19:53606223-53606236
45	CTCF	chr19:53606591-53606671	GM19239	blood:	n/a	n/a
46	CTCF	chr19:53606180-53606330	AG04449	skin:	n/a	chr19:53606223-53606236
47	CTCF	chr19:53606975-53607285	K562	blood:	n/a	n/a
48	CTCF	chr19:53614791-53614891	GM20000	blood:	n/a	n/a
49	CTCF	chr19:53606232-53606287	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:53606610-53606654	NHEK	skin:	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	chr19:53602096-53602146	RPTEC	kidney:	n/a
2	chr19:53605221-53605271	ECC-1	luminal epithelium:	n/a
3	chr19:53602096-53602146	RPTEC	kidney:	n/a
4	chr19:53605221-53605271	ECC-1	luminal epithelium:	n/a
5	chr19:53607021-53607071	NT2-D1	testis:	n/a
6	chr19:53606538-53606588	GM12891	blood:	n/a
7	chr19:53619086-53619136	Hela-S3	cervix:	n/a
8	chr19:53602096-53602146	Jurkat	blood:	n/a
9	chr19:53606654-53606704	U87	brain:	n/a
10	chr19:53605221-53605271	A549	lung:	n/a
11	chr19:53607009-53607059	HNPCEpiC	eye:	n/a
12	chr19:53606340-53606390	LNCaP	prostate:	n/a
13	chr19:53607009-53607059	HUVEC	blood vessel:	n/a
14	chr19:53602096-53602146	A549	lung:	n/a
15	chr19:53607009-53607059	GM12878	blood:	n/a
16	chr19:53619086-53619136	HMEC	breast:	n/a
17	chr19:53602096-53602146	HCM	heart:	n/a
18	chr19:53607009-53607059	GM12892	blood:	n/a
19	chr19:53606538-53606588	ECC-1	luminal epithelium:	n/a
20	chr19:53605221-53605271	MCF-7	breast:	n/a
21	chr19:53606538-53606588	HCM	heart:	n/a
22	chr19:53606340-53606390	ECC-1	luminal epithelium:	n/a
23	chr19:53606654-53606704	Jurkat	blood:	n/a
24	chr19:53606538-53606588	HIPEpiC	eye:	n/a
25	chr19:53619086-53619136	U87	brain:	n/a
26	chr19:53607009-53607059	BJ	skin:	n/a
27	chr19:53605221-53605271	HCPEpiC	choroid plexus:	n/a
28	chr19:53602096-53602146	HUVEC	blood vessel:	n/a
29	chr19:53602096-53602146	HIPEpiC	eye:	n/a
30	chr19:53606654-53606704	AG09309	skin:	n/a
31	chr19:53606654-53606704	GM12892	blood:	n/a
32	chr19:53606654-53606704	ovcar-3	ovarian:	n/a
33	chr19:53605221-53605271	GM19239	blood:	n/a
34	chr19:53607021-53607071	NHDF-neo	bronchial:	n/a
35	chr19:53606654-53606704	SK-N-SH	brain:	n/a
36	chr19:53619086-53619136	HCM	heart:	n/a
37	chr19:53605221-53605271	HRCEpiC	kidney:	n/a
38	chr19:53606340-53606390	SK-N-SH_RA	brain:	n/a
39	chr19:53607021-53607071	HCT-116	colon:	n/a
40	chr19:53607009-53607059	HEK293	kidney:	embryo
41	chr19:53606654-53606704	GM19239	blood:	n/a
42	chr19:53606654-53606704	PFSK-1	brain:	n/a
43	chr19:53606340-53606390	HRCEpiC	kidney:	n/a
44	chr19:53606538-53606588	NH-A	brain:	n/a
45	chr19:53607009-53607059	SKMC	muscle:	n/a
46	chr19:53606340-53606390	SKMC	muscle:	n/a
47	chr19:53607021-53607071	NHBE	bronchial:	n/a
48	chr19:53606654-53606704	ECC-1	luminal epithelium:	n/a
49	chr19:53607021-53607071	HUVEC	blood vessel:	n/a
50	chr19:53607021-53607071	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:53606146..53606673-chr6:34759631..34760361,2	Hela-S3	cervix:
2	chr19:53600011..53602788-chr19:53603096..53607332,6	MCF-7	breast:
3	chr19:53605668..53607608-chr19:53634404..53636647,2	MCF-7	breast:
4	chr19:53598253..53601018-chr19:53604672..53606722,3	MCF-7	breast:
5	chr19:53601090..53603099-chr19:53630653..53632192,2	MCF-7	breast:
6	chr19:53601090..53603099-chr19:53630653..53632192,2	MCF-7	breast:
7	chr19:53610363..53612627-chr19:53660815..53663368,2	K562	blood:
8	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
9	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
10	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
11	chr19:53586275..53589046-chr19:53598456..53600578,2	K562	blood:
12	chr1:161171615..161172146-chr19:53606421..53607387,2	Hela-S3	cervix:
13	chr19:53445011..53447703-chr19:53608056..53610253,2	MCF-7	breast:
14	chr19:53604512..53608513-chr19:53609307..53612794,4	MCF-7	breast:
15	chr19:52691998..52694919-chr19:53605403..53608321,3	K562	blood:
16	chr19:53580105..53582342-chr19:53607361..53608967,2	MCF-7	breast:
17	chr19:53605891..53607584-chr19:58896314..58898154,2	MCF-7	breast:
18	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
19	chr19:53461518..53463448-chr19:53612422..53614320,2	K562	blood:
20	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
21	chr19:53596128..53598162-chr19:53599456..53601173,2	MCF-7	breast:
22	chr19:53603113..53604676-chr19:53605160..53608027,2	MCF-7	breast:
23	chr19:53618140..53620226-chr19:53631544..53634250,2	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 1425 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2013241	chr19:53600191-53600192	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369306058	chr19:53600224-53600225	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543955173	chr19:53600332-53600333	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs329721	chr19:53600422-53600423	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529561497	chr19:53600436-53600437	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1867050	chr19:53600478-53600479	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3826699	chr19:53600482-53600483	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533396033	chr19:53600486-53600487	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369062098	chr19:53600489-53600490	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570206755	chr19:53600528-53600529	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530918833	chr19:53600538-53600539	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1867051	chr19:53600586-53600587	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147169476	chr19:53600596-53600597	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537602798	chr19:53600617-53600618	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34142384	chr19:53600639-53600640	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1867053	chr19:53600640-53600641	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs147517854	chr19:53600645-53600646	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148373758	chr19:53600651-53600652	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs329720	chr19:53600659-53600660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs150072596	chr19:53600666-53600667	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111617454	chr19:53600667-53600668	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567121184	chr19:53600676-53600677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148719508	chr19:53600693-53600694	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574183658	chr19:53600720-53600721	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs386810639	chr19:53600751-53600752	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77949198	chr19:53600752-53600753	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533356869	chr19:53600759-53600760	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112159087	chr19:53600764-53600765	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142308613	chr19:53600781-53600782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563676606	chr19:53600825-53600826	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
31	rs531007350	chr19:53600826-53600827	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
32	rs567440266	chr19:53600839-53600840	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

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	chr19:53594400-53600600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:53594400-53601000	Weak transcription	Primary B cells from cord blood	blood
14	chr19:53594400-53603400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:53594400-53605200	Weak transcription	Fetal Lung	lung
16	chr19:53594600-53600800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:53594600-53604800	Weak transcription	Fetal Kidney	kidney
18	chr19:53594600-53604800	Weak transcription	NHEK	skin
19	chr19:53595000-53600800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:53595000-53600800	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:53595000-53600800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:53595000-53601000	Weak transcription	Aorta	Aorta
23	chr19:53595000-53601000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:53595000-53601000	Weak transcription	HMEC	breast
25	chr19:53595200-53600600	Weak transcription	Adipose Nuclei	Adipose
26	chr19:53595200-53600800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:53595200-53600800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:53595200-53600800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:53595200-53600800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:53595200-53600800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:53595200-53600800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:53595200-53600800	Weak transcription	NHDF-Ad	bronchial
33	chr19:53595200-53601000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:53595200-53601000	Weak transcription	Gastric	stomach
35	chr19:53595200-53601000	Weak transcription	NHLF	lung
36	chr19:53595200-53601000	Weak transcription	Osteobl	bone
37	chr19:53595200-53601200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:53595200-53601200	Weak transcription	Esophagus	oesophagus
39	chr19:53595200-53602600	Weak transcription	Brain Substantia Nigra	brain
40	chr19:53595200-53603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr19:53595200-53604000	Weak transcription	Pancreas	Pancrea
42	chr19:53595600-53600800	Weak transcription	Colonic Mucosa	Colon
43	chr19:53596000-53600800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr19:53596600-53603200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr19:53597000-53600600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr19:53597000-53601600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:53597400-53600200	ZNF genes & repeats	Lung	lung
48	chr19:53597600-53600200	Enhancers	Right Ventricle	heart
49	chr19:53597600-53604800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:53597800-53600800	Weak transcription	Primary T cells fromperipheralblood	blood

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