Variant report

Variant	nsv580068
Chromosome Location	chr19:53594806-53623771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:53606497-53607018	GM12878	blood:	n/a	n/a
2	ATF3	chr19:53606544-53606749	K562	blood:	n/a	chr19:53606712-53606721
3	BACH1	chr19:53606550-53607222	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:53607015-53607178	K562	blood:	n/a	n/a
5	BACH1	chr19:53597936-53598825	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	chr19:53604884-53605062	K562	blood:	n/a	chr19:53604994-53605011
13	CEBPB	chr19:53595971-53596357	IMR90	lung:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
14	CEBPB	chr19:53595958-53596353	A549	lung:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
15	CEBPB	chr19:53595978-53596330	MCF-7	breast:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
16	CEBPB	chr19:53595879-53596425	A549	lung:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
17	CEBPB	chr19:53595968-53596360	HepG2	liver:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
18	CEBPB	chr19:53598609-53598762	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr19:53612975-53613054	K562	blood:	n/a	n/a
20	CEBPB	chr19:53595975-53596340	Hela-S3	cervix:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
21	CEBPB	chr19:53595975-53596347	H1-hESC	embryonic stem cell:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
22	CEBPB	chr19:53595962-53596253	HepG2	liver:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
23	CEBPB	chr19:53596031-53596221	HepG2	liver:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
24	CEBPB	chr19:53596017-53596348	MCF-7	breast:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
25	CEBPB	chr19:53595997-53596388	A549	lung:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
26	CEBPB	chr19:53596003-53596287	K562	blood:	n/a	chr19:53596165-53596174 chr19:53596163-53596176 chr19:53596165-53596174 chr19:53596164-53596175 chr19:53596163-53596176 chr19:53596165-53596174
27	CEBPD	chr19:53606339-53607235	K562	blood:	n/a	n/a
28	CHD1	chr19:53606365-53606565	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr19:53605155-53607496	IMR90	lung:	n/a	chr19:53606338-53606348
30	CHD1	chr19:53605620-53607121	GM12878	blood:	n/a	chr19:53606338-53606348
31	CHD2	chr19:53606624-53606810	HepG2	liver:	n/a	n/a
32	CHD2	chr19:53598526-53598682	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr19:53606410-53607157	GM12878	blood:	n/a	n/a
34	CHD2	chr19:53606569-53606802	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr19:53606469-53606501	K562	blood:	n/a	n/a
36	CHD2	chr19:53606419-53607232	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr19:53606942-53607168	K562	blood:	n/a	n/a
38	CREB1	chr19:53606450-53606985	A549	lung:	n/a	n/a
39	CREB1	chr19:53606433-53607089	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr19:53606393-53607249	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr19:53606415-53607268	HepG2	liver:	n/a	n/a
42	CREB1	chr19:53606391-53607205	K562	blood:	n/a	n/a
43	CREB1	chr19:53606521-53607254	GM12878	blood:	n/a	n/a
44	CREB1	chr19:53606581-53606800	A549	lung:	n/a	n/a
45	CTBP2	chr19:53606571-53607142	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr19:53606120-53606270	HRE	kidney:	n/a	chr19:53606223-53606236
47	CTCF	chr19:53606060-53606210	BJ	skin:	n/a	n/a
48	CTCF	chr19:53606140-53606290	HCPEpiC	choroid plexus:	n/a	chr19:53606223-53606236
49	CTCF	chr19:53594660-53594810	SAEC	small airway:	n/a	n/a
50	CTCF	chr19:53606232-53606287	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53605221-53605271	GM19239	blood:	n/a
2	chr19:53605221-53605271	GM19239	blood:	n/a
3	chr19:53607009-53607059	AoSMC	blood vessel:	n/a
4	chr19:53606654-53606704	NT2-D1	testis:	n/a
5	chr19:53619086-53619136	HEEpiC	esophagus:	n/a
6	chr19:53602096-53602146	Jurkat	blood:	n/a
7	chr19:53602096-53602146	A549	lung:	n/a
8	chr19:53606654-53606704	ovcar-3	ovarian:	n/a
9	chr19:53605221-53605271	PANC-1	pancreas:	n/a
10	chr19:53606340-53606390	SK-N-SH_RA	brain:	n/a
11	chr19:53607009-53607059	HRE	kidney:	n/a
12	chr19:53605221-53605271	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:53606538-53606588	ovcar-3	ovarian:	n/a
14	chr19:53606340-53606390	Jurkat	blood:	n/a
15	chr19:53606654-53606704	AG04449	skin:	fetal
16	chr19:53602096-53602146	Hepatocyte	liver:	n/a
17	chr19:53606538-53606588	GM12892	blood:	n/a
18	chr19:53606654-53606704	HRPEpiC	eye:	n/a
19	chr19:53607021-53607071	NHDF-neo	bronchial:	n/a
20	chr19:53607009-53607059	HAEpiC	amniotic membrane:	n/a
21	chr19:53607021-53607071	HRE	kidney:	n/a
22	chr19:53606538-53606588	HMEC	breast:	n/a
23	chr19:53602096-53602146	U87	brain:	n/a
24	chr19:53607009-53607059	PANC-1	pancreas:	n/a
25	chr19:53607009-53607059	PrEC	prostate:	n/a
26	chr19:53606538-53606588	AG04450	lung:	fetal
27	chr19:53605221-53605271	GM12891	blood:	n/a
28	chr19:53607021-53607071	Jurkat	blood:	n/a
29	chr19:53606538-53606588	NB4	blood:	n/a
30	chr19:53606654-53606704	HRE	kidney:	n/a
31	chr19:53606654-53606704	HCF	heart:	n/a
32	chr19:53602096-53602146	GM12891	blood:	n/a
33	chr19:53607021-53607071	HEK293	kidney:	embryo
34	chr19:53606654-53606704	SK-N-MC	brain:	n/a
35	chr19:53605221-53605271	Hepatocyte	liver:	n/a
36	chr19:53606654-53606704	T-47D	breast:	n/a
37	chr19:53619086-53619136	HNPCEpiC	eye:	n/a
38	chr19:53606654-53606704	GM12892	blood:	n/a
39	chr19:53607021-53607071	PFSK-1	brain:	n/a
40	chr19:53619086-53619136	HEK293	kidney:	embryo
41	chr19:53602096-53602146	BE2_C	brain:	n/a
42	chr19:53607009-53607059	GM12891	blood:	n/a
43	chr19:53607009-53607059	HRPEpiC	eye:	n/a
44	chr19:53602096-53602146	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:53602096-53602146	HMEC	breast:	n/a
46	chr19:53606538-53606588	AG09319	gingival:	n/a
47	chr19:53619086-53619136	SKMC	muscle:	n/a
48	chr19:53606340-53606390	GM19239	blood:	n/a
49	chr19:53606538-53606588	A549	lung:	n/a
50	chr19:53619086-53619136	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
2	chr19:53610363..53612627-chr19:53660815..53663368,2	K562	blood:
3	chr1:161171615..161172146-chr19:53606421..53607387,2	Hela-S3	cervix:
4	chr19:53592480..53599104-chr19:53600939..53607737,12	K562	blood:
5	chr19:53605668..53607608-chr19:53634404..53636647,2	MCF-7	breast:
6	chr19:53600011..53602788-chr19:53603096..53607332,6	MCF-7	breast:
7	chr19:53598253..53601018-chr19:53604672..53606722,3	MCF-7	breast:
8	chr19:53601090..53603099-chr19:53630653..53632192,2	MCF-7	breast:
9	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
10	chr19:53618140..53620226-chr19:53631544..53634250,2	MCF-7	breast:
11	chr19:53604512..53608513-chr19:53609307..53612794,4	MCF-7	breast:
12	chr19:53588688..53591621-chr19:53593968..53598410,4	K562	blood:
13	chr19:53461518..53463448-chr19:53612422..53614320,2	K562	blood:
14	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
15	chr19:53587264..53591621-chr19:53592598..53596063,4	K562	blood:
16	chr19:53606146..53606673-chr6:34759631..34760361,2	Hela-S3	cervix:
17	chr19:53603113..53604676-chr19:53605160..53608027,2	MCF-7	breast:
18	chr19:53605891..53607584-chr19:58896314..58898154,2	MCF-7	breast:
19	chr19:53445011..53447703-chr19:53608056..53610253,2	MCF-7	breast:
20	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
21	chr19:53592779..53599104-chr19:53601029..53609520,13	K562	blood:
22	chr19:53580105..53582342-chr19:53607361..53608967,2	MCF-7	breast:
23	chr19:53596128..53598162-chr19:53599456..53601173,2	MCF-7	breast:
24	chr19:53586275..53589046-chr19:53598456..53600578,2	K562	blood:
25	chr19:52691998..52694919-chr19:53605403..53608321,3	K562	blood:
26	chr19:53596128..53598162-chr19:53599456..53601173,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF347-2	chr19:53618511-53618585	NONHSAT067632
2	lnc-ZNF347-2	chr19:53612991-53613161	NONHSAT067631
3	lnc-ZNF347-2	chr19:53619010-53619064	NONHSAT067634
4	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067635
5	lnc-VN1R2-9	chr19:53611890-53613152	NONHSAT067620
6	lnc-ZNF415-2	chr19:53606518-53606580	NONHSAT067628
7	lnc-ZNF347-2	chr19:53618957-53619064	NONHSAT067632
8	lnc-ZNF415-2	chr19:53594287-53594973	NONHSAT067628
9	lnc-ZNF415-2	chr19:53606518-53606631	NONHSAT067624
10	lnc-ZNF347-2	chr19:53619037-53619177	NONHSAT067635
11	lnc-ZNF415-2	chr19:53594890-53594973	NONHSAT067624
12	lnc-ZNF347-2	chr19:53619513-53619686	NONHSAT067636
13	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067633
14	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067632
15	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067634
16	lnc-ZNF347-2	chr19:53618987-53619177	NONHSAT067633
17	lnc-ZNF347-2	chr19:53612860-53613161	NONHSAT067630

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

Extended variants
information (count: 1332 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3745178	chr19:53594806-53594807	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538549711	chr19:53594822-53594823	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs556511851	chr19:53594838-53594839	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs574911184	chr19:53594880-53594881	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs542301663	chr19:53594881-53594882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs561069641	chr19:53594911-53594912	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs574152734	chr19:53594941-53594942	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs373266130	chr19:53594963-53594964	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs376608186	chr19:53594970-53594971	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs559703553	chr19:53594989-53594990	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555927574	chr19:53594992-53594993	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183894957	chr19:53595043-53595044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56173130	chr19:53595058-53595059	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35939238	chr19:53595059-53595060	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563638190	chr19:53595081-53595082	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530962494	chr19:53595108-53595109	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188464205	chr19:53595114-53595115	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567793741	chr19:53595182-53595183	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10413405	chr19:53595199-53595200	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193043210	chr19:53595261-53595262	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534817269	chr19:53595273-53595274	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546728969	chr19:53595319-53595320	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10413980	chr19:53595330-53595331	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535312974	chr19:53595360-53595361	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538512377	chr19:53595376-53595377	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556872653	chr19:53595390-53595391	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35240324	chr19:53595469-53595470	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373988715	chr19:53595475-53595476	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535893477	chr19:53595506-53595507	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554355400	chr19:53595512-53595513	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184115603	chr19:53595537-53595538	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188466458	chr19:53595551-53595552	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113329786	chr19:53595567-53595568	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553502677	chr19:53595588-53595589	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7253093	chr19:53595612-53595613	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs7254120	chr19:53595621-53595622	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs565276705	chr19:53595623-53595624	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7253213	chr19:53595624-53595625	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530925735	chr19:53595625-53595626	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191474179	chr19:53595697-53595698	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561128524	chr19:53595698-53595699	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528557225	chr19:53595712-53595713	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199714942	chr19:53595713-53595714	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6509723	chr19:53595717-53595718	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537164304	chr19:53595730-53595731	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374176788	chr19:53595738-53595739	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12610734	chr19:53595759-53595760	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532201314	chr19:53595828-53595829	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550454479	chr19:53595846-53595847	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568850256	chr19:53595856-53595857	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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

Chromatin state (count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
2	chr19:53574800-53599600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:53575600-53598600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
6	chr19:53580600-53597800	Weak transcription	Fetal Heart	heart
7	chr19:53584000-53599000	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr19:53584200-53595000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:53584200-53595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:53584400-53595200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:53584400-53596400	Strong transcription	Fetal Brain Female	brain
12	chr19:53584400-53598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:53584600-53595000	Strong transcription	Brain Cingulate Gyrus	brain
14	chr19:53584600-53599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:53584600-53599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:53584800-53595400	Strong transcription	Brain Germinal Matrix	brain
17	chr19:53585000-53595200	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:53585000-53597000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:53585200-53596200	Strong transcription	Thymus	Thymus
20	chr19:53585200-53596400	Strong transcription	Dnd41	blood
21	chr19:53585200-53597800	Strong transcription	Placenta	Placenta
22	chr19:53585200-53599400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:53585200-53599600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:53585400-53595200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:53585400-53595200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
27	chr19:53585600-53595200	Strong transcription	Brain Angular Gyrus	brain
28	chr19:53585600-53595200	Strong transcription	Gastric	stomach
29	chr19:53585600-53598800	Strong transcription	HSMMtube	muscle
30	chr19:53585600-53599000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:53585600-53599200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:53585800-53595200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:53585800-53597800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr19:53586000-53595200	Strong transcription	Fetal Thymus	thymus
35	chr19:53586000-53595600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:53586000-53599000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:53586000-53599200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:53586000-53599600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:53586200-53595000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:53586200-53595000	Strong transcription	Ovary	ovary
41	chr19:53586200-53595200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:53586200-53598800	Strong transcription	Fetal Stomach	stomach
43	chr19:53586400-53595200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr19:53586400-53599400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:53586400-53599800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:53586400-53603400	Strong transcription	Primary T cells from cord blood	blood
47	chr19:53586600-53599200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:53586600-53599600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:53586600-53600000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:53586800-53595200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links