Variant report

Variant	nsv510772
Chromosome Location	chr19:53037211-53103470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1181)
CpG islands
(count:2075)
Chromatin interactive
region (count:28)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1181 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53070029-53070190	K562	blood:	n/a	n/a
2	ARID3A	chr19:53073449-53073460	K562	blood:	n/a	n/a
3	ARID3A	chr19:53073479-53073589	HepG2	liver:	n/a	n/a
4	ATF1	chr19:53069902-53070187	K562	blood:	n/a	n/a
5	ATF2	chr19:53046242-53046617	GM12878	blood:	n/a	n/a
6	ATF2	chr19:53039109-53039574	GM12878	blood:	n/a	n/a
7	ATF2	chr19:53046181-53046643	GM12878	blood:	n/a	n/a
8	ATF2	chr19:53039130-53039581	GM12878	blood:	n/a	n/a
9	BACH1	chr19:53073489-53073893	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr19:53039301-53039394	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr19:53046198-53046908	GM12878	blood:	n/a	chr19:53046476-53046486 chr19:53046472-53046482
12	BATF	chr19:53046309-53046683	GM12878	blood:	n/a	chr19:53046476-53046486 chr19:53046472-53046482
13	BCL11A	chr19:53103098-53103246	GM12878	blood:	n/a	n/a
14	BCL11A	chr19:53046240-53046699	GM12878	blood:	n/a	chr19:53046475-53046484
15	BCL11A	chr19:53046262-53046584	GM12878	blood:	n/a	chr19:53046475-53046484
16	BCL3	chr19:53046316-53046590	GM12878	blood:	n/a	chr19:53046475-53046484
17	BCLAF1	chr19:53039125-53039440	GM12878	blood:	n/a	n/a
18	BCLAF1	chr19:53046213-53046650	GM12878	blood:	n/a	chr19:53046475-53046484
19	BCLAF1	chr19:53046231-53046618	GM12878	blood:	n/a	chr19:53046475-53046484
20	BHLHE40	chr19:53073388-53074192	K562	blood:	n/a	n/a
21	BHLHE40	chr19:53039187-53039663	GM12878	blood:	n/a	n/a
22	BHLHE40	chr19:53073465-53074054	GM12878	blood:	n/a	n/a
23	BHLHE40	chr19:53070071-53070202	K562	blood:	n/a	n/a
24	BHLHE40	chr19:53046292-53046583	GM12878	blood:	n/a	n/a
25	BRCA1	chr19:53073603-53074083	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr19:53073555-53073716	GM12878	blood:	n/a	n/a
27	BRCA1	chr19:53039272-53039472	GM12878	blood:	n/a	n/a
28	BRCA1	chr19:53073589-53074040	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr19:53073512-53073861	K562	blood:	n/a	n/a
30	CBX3	chr19:53057411-53058731	K562	blood:	n/a	n/a
31	CBX3	chr19:53057705-53058535	K562	blood:	n/a	n/a
32	CBX3	chr19:53073140-53074166	K562	blood:	n/a	n/a
33	CEBPB	chr19:53053365-53053692	IMR90	lung:	n/a	chr19:53053538-53053549
34	CEBPB	chr19:53099899-53100273	HepG2	liver:	n/a	n/a
35	CEBPB	chr19:53057465-53057824	HepG2	liver:	n/a	n/a
36	CEBPB	chr19:53069952-53070273	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr19:53070013-53070155	K562	blood:	n/a	n/a
38	CEBPB	chr19:53053413-53053601	A549	lung:	n/a	chr19:53053538-53053549
39	CEBPB	chr19:53099901-53100188	A549	lung:	n/a	n/a
40	CEBPB	chr19:53057468-53057810	IMR90	lung:	n/a	n/a
41	CEBPB	chr19:53057476-53057816	A549	lung:	n/a	n/a
42	CEBPB	chr19:53053526-53053558	HepG2	liver:	n/a	chr19:53053538-53053549
43	CEBPB	chr19:53069964-53070293	IMR90	lung:	n/a	n/a
44	CEBPB	chr19:53057479-53057806	K562	blood:	n/a	n/a
45	CHD1	chr19:53038918-53038933	GM12878	blood:	n/a	n/a
46	CHD1	chr19:53039390-53039441	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr19:53073518-53074222	GM12878	blood:	n/a	chr19:53074031-53074041
48	CHD1	chr19:53073553-53073802	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr19:53039185-53039651	GM12878	blood:	n/a	n/a
50	CHD2	chr19:53073626-53074145	HepG2	liver:	n/a	chr19:53074031-53074041

(count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53073334-53073384	Hepatocyte	liver:	n/a
2	chr19:53073334-53073384	Hepatocyte	liver:	n/a
3	chr19:53085685-53085735	GM12892	blood:	n/a
4	chr19:53073399-53073449	HEEpiC	esophagus:	n/a
5	chr19:53075878-53075928	SKMC	muscle:	n/a
6	chr19:53087184-53087234	HL-60	blood:	n/a
7	chr19:53099757-53099807	HCPEpiC	choroid plexus:	n/a
8	chr19:53073404-53073454	HCT-116	colon:	n/a
9	chr19:53085685-53085735	SK-N-SH	brain:	n/a
10	chr19:53088551-53088601	GM06990	blood:	n/a
11	chr19:53073404-53073454	A549	lung:	n/a
12	chr19:53073420-53073470	BJ	skin:	n/a
13	chr19:53073399-53073449	CMK	blood:	n/a
14	chr19:53069520-53069570	HepG2	liver:	n/a
15	chr19:53098945-53098995	PANC-1	pancreas:	n/a
16	chr19:53099796-53099846	T-47D	breast:	n/a
17	chr19:53073242-53073292	IMR90	lung:	fetal
18	chr19:53039534-53039584	HCF	heart:	n/a
19	chr19:53088849-53088899	Hepatocyte	liver:	n/a
20	chr19:53088849-53088899	Jurkat	blood:	n/a
21	chr19:53039444-53039494	CMK	blood:	n/a
22	chr19:53073242-53073292	AG04450	lung:	fetal
23	chr19:53099757-53099807	PANC-1	pancreas:	n/a
24	chr19:53039444-53039494	IMR90	lung:	fetal
25	chr19:53101634-53101684	GM12892	blood:	n/a
26	chr19:53073577-53073627	BE2_C	brain:	n/a
27	chr19:53073577-53073627	IMR90	lung:	fetal
28	chr19:53092499-53092549	AG04449	skin:	fetal
29	chr19:53092499-53092549	HUVEC	blood vessel:	n/a
30	chr19:53087184-53087234	HCT-116	colon:	n/a
31	chr19:53073285-53073335	SK-N-MC	brain:	n/a
32	chr19:53073334-53073384	HRE	kidney:	n/a
33	chr19:53098913-53098963	AG09309	skin:	n/a
34	chr19:53057730-53057780	HEK293	kidney:	embryo
35	chr19:53075878-53075928	MCF10A-Er-Src	breast:	n/a
36	chr19:53092499-53092549	HEK293	kidney:	embryo
37	chr19:53098913-53098963	HepG2	liver:	n/a
38	chr19:53073285-53073335	SAEC	small airway:	n/a
39	chr19:53057730-53057780	HNPCEpiC	eye:	n/a
40	chr19:53088327-53088377	NT2-D1	testis:	n/a
41	chr19:53099757-53099807	GM12878	blood:	n/a
42	chr19:53073420-53073470	BE2_C	brain:	n/a
43	chr19:53040230-53040280	NHDF-neo	bronchial:	n/a
44	chr19:53099796-53099846	AG10803	skin:	n/a
45	chr19:53069520-53069570	AG09309	skin:	n/a
46	chr19:53073285-53073335	ECC-1	luminal epithelium:	n/a
47	chr19:53088327-53088377	GM19239	blood:	n/a
48	chr19:53069520-53069570	HEEpiC	esophagus:	n/a
49	chr19:53098913-53098963	BJ	skin:	n/a
50	chr19:53088551-53088601	Caco-2	colon:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53098492..53100632-chr19:53102754..53104581,2	K562	blood:
2	chr19:53087080..53089827-chr19:53090383..53092275,2	K562	blood:
3	chr19:53072947..53075360-chr19:53081572..53083842,2	K562	blood:
4	chr19:53063695..53066005-chr19:53068578..53070383,2	K562	blood:
5	chr19:53039676..53041332-chr19:53072309..53073853,2	MCF-7	breast:
6	chr19:53085553..53087688-chr19:53089270..53091312,2	MCF-7	breast:
7	chr19:53039880..53042500-chr19:53052327..53054340,2	MCF-7	breast:
8	chr19:53030412..53033347-chr19:53075579..53077399,2	K562	blood:
9	chr19:53039880..53042500-chr19:53052327..53054340,2	MCF-7	breast:
10	chr19:53029459..53032258-chr19:53036873..53039549,6	MCF-7	breast:
11	chr19:53029450..53032188-chr19:53072538..53074123,2	K562	blood:
12	chr19:53085553..53087688-chr19:53089270..53091312,2	MCF-7	breast:
13	chr19:53073369..53074894-chr19:53098457..53100751,2	MCF-7	breast:
14	chr19:53068984..53070722-chr19:53073373..53074993,2	MCF-7	breast:
15	chr19:53063695..53066005-chr19:53068578..53070383,2	K562	blood:
16	chr19:53073084..53075502-chr19:53084084..53086911,2	K562	blood:
17	chr19:53030382..53031999-chr19:53102744..53106373,4	K562	blood:
18	chr19:53029127..53032188-chr19:53072538..53075129,3	K562	blood:
19	chr19:52583726..52585349-chr19:53074729..53076869,2	K562	blood:
20	chr19:53031656..53034156-chr19:53037494..53039065,2	MCF-7	breast:
21	chr19:53073369..53074894-chr19:53098457..53100751,2	MCF-7	breast:
22	chr19:53087080..53089827-chr19:53090383..53092275,2	K562	blood:
23	chr19:53073504..53075016-chr19:53086712..53089202,2	MCF-7	breast:
24	chr19:53073322..53075540-chr19:53075629..53079478,4	MCF-7	breast:
25	chr19:53086321..53088746-chr19:53090945..53093130,2	K562	blood:
26	chr19:53098815..53100632-chr19:53103081..53105260,2	K562	blood:
27	chr19:53073504..53075016-chr19:53086712..53089202,2	MCF-7	breast:
28	chr19:53039240..53039740-chr19:53289638..53290383,2	NB4	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF701-1	chr19:53102400-53103405	NONHSAT067569
2	lnc-ZNF701-1	chr19:53099890-53100056	NONHSAT067567
3	lnc-ZNF83-2	chr19:53101902-53102140	ENSG00000268970.1
4	lnc-ZNF83-4	chr19:53088283-53088814	ENSG00000268886.1
5	lnc-ZNF701-1	chr19:53099657-53099709	NONHSAT067566
6	lnc-ZNF83-4	chr19:53079136-53079243	ENSG00000268886.1
7	lnc-ZNF701-1	chr19:53099127-53099572	NONHSAT067566
8	lnc-ZNF83-2	chr19:53100952-53101356	ENSG00000268970.1
9	lnc-ZNF701-1	chr19:53091758-53091866	NONHSAT067564
10	lnc-ZNF701-1	chr19:53095355-53095481	NONHSAT067564
11	lnc-ZNF701-1	chr19:53101468-53102058	NONHSAT067569
12	lnc-ZNF701-1	chr19:53099792-53100056	NONHSAT067566
13	lnc-ZNF701-1	chr19:53100261-53100564	NONHSAT067568
14	lnc-ZNF701-1	chr19:53100112-53100660	NONHSAT067566
15	lnc-ZNF701-1	chr19:53100006-53100056	NONHSAT067568
16	lnc-ZNF83-6	chr19:53057604-53057697	NONHSAT067560
17	lnc-ZNF701-1	chr19:53100112-53100176	NONHSAT067568
18	lnc-ZNF701-1	chr19:53099937-53100823	NONHSAT067569
19	lnc-ZNF83-6	chr19:53058370-53059548	NONHSAT067560
20	lnc-ZNF701-1	chr19:53099127-53099572	NONHSAT067568
21	lnc-ZNF701-1	chr19:53095291-53095481	NONHSAT067565
22	lnc-ZNF701-1	chr19:53100112-53100660	NONHSAT067567
23	lnc-ZNF701-1	chr19:53099657-53099709	NONHSAT067568
24	lnc-ZNF701-1	chr19:53098870-53100598	NONHSAT067565
25	lnc-ZNF701-1	chr19:53099127-53099642	NONHSAT067567
26	lnc-ZNF701-1	chr19:53098870-53098941	NONHSAT067564
27	lnc-ZNF701-1	chr19:53099792-53099841	NONHSAT067568

No data

Variant related genes	Relation type
ZNF137P	TF binding region
ZNF701	TF binding region
ZNF808	TF binding region
RPL39P34	TF binding region
ENSG00000268970	TF binding region
ENSG00000268886	TF binding region
ZNF137P	CpG island
ZNF701	CpG island
ZNF808	CpG island
RPL39P34	CpG island
ENSG00000268970	CpG island
ENSG00000268886	CpG island
ENSG00000198482	chromatin interactions
ENSG00000167562	chromatin interactions
ENSG00000268886	chromatin interactions
ENSG00000189190	chromatin interactions
ENSG00000123870	chromatin interactions

Extended variants
information (count: 3437 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3437 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538009696	chr19:53037219-53037220	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559880556	chr19:53037250-53037251	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530689293	chr19:53037341-53037342	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188193329	chr19:53037342-53037343	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541360815	chr19:53037361-53037362	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559640109	chr19:53037510-53037511	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528900014	chr19:53037512-53037513	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567420569	chr19:53037516-53037517	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376595	chr19:53037612-53037613	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547951788	chr19:53037655-53037656	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562776306	chr19:53037669-53037670	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566022519	chr19:53037685-53037686	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56956089	chr19:53037771-53037772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139609503	chr19:53037795-53037796	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575212632	chr19:53037804-53037805	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186484321	chr19:53037805-53037806	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375718297	chr19:53037815-53037816	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551130774	chr19:53037846-53037847	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149750245	chr19:53037870-53037871	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113117660	chr19:53037881-53037882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141118159	chr19:53037908-53037909	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190867118	chr19:53037918-53037919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549045157	chr19:53037923-53037924	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568741487	chr19:53037932-53037933	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34849583	chr19:53037935-53037936	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs66568878	chr19:53037936-53037937	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145069258	chr19:53037976-53037977	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535623822	chr19:53037977-53037978	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62117196	chr19:53037987-53037988	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563096406	chr19:53038009-53038010	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369806	chr19:53038084-53038085	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201249452	chr19:53038163-53038164	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181933786	chr19:53038175-53038176	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369192949	chr19:53038200-53038201	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368040782	chr19:53038272-53038273	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143326653	chr19:53038355-53038356	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs28621792	chr19:53038359-53038360	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186740756	chr19:53038361-53038362	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111496757	chr19:53038367-53038368	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113779050	chr19:53038381-53038382	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145897842	chr19:53038385-53038386	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182897757	chr19:53038411-53038412	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186907364	chr19:53038452-53038453	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541188048	chr19:53038484-53038485	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs62117197	chr19:53038486-53038487	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533123005	chr19:53038497-53038498	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs642493	chr19:53038498-53038499	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534916271	chr19:53038502-53038503	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553264754	chr19:53038506-53038507	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577684494	chr19:53038508-53038509	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Adrenocortical carcinoma	18281524	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:3220 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53031800-53038600	Weak transcription	Aorta	Aorta
2	chr19:53031800-53038800	Weak transcription	Ovary	ovary
3	chr19:53032000-53038000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:53032000-53038200	Weak transcription	Fetal Lung	lung
5	chr19:53032000-53038400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:53032000-53038400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:53032000-53038400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr19:53032000-53038600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:53032000-53038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:53032000-53038600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:53032000-53038600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:53032000-53038600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:53032000-53038600	Weak transcription	HMEC	breast
14	chr19:53032000-53038600	Weak transcription	HSMM	muscle
15	chr19:53032000-53038600	Weak transcription	HUVEC	blood vessel
16	chr19:53032000-53038600	Weak transcription	NH-A	brain
17	chr19:53032000-53038600	Weak transcription	NHDF-Ad	bronchial
18	chr19:53032000-53038600	Weak transcription	Osteobl	bone
19	chr19:53032000-53038800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:53032000-53038800	Weak transcription	Small Intestine	intestine
21	chr19:53032000-53039000	Weak transcription	HSMMtube	muscle
22	chr19:53032200-53037400	Weak transcription	Right Atrium	heart
23	chr19:53032200-53038000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:53032200-53038200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:53032200-53038200	Weak transcription	Brain Germinal Matrix	brain
26	chr19:53032200-53038600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:53032200-53038600	Weak transcription	NHLF	lung
28	chr19:53032200-53039400	Weak transcription	Stomach Mucosa	stomach
29	chr19:53032200-53057000	Weak transcription	Hela-S3	cervix
30	chr19:53032400-53038200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:53032400-53038200	Weak transcription	Primary T cells from cord blood	blood
32	chr19:53032400-53038200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:53032400-53038200	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:53032400-53038600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:53032400-53038600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:53032400-53038600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr19:53032400-53038800	Weak transcription	Fetal Kidney	kidney
38	chr19:53032400-53038800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:53032600-53037600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:53032600-53037800	Weak transcription	Right Ventricle	heart
41	chr19:53032600-53038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:53032600-53038000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:53032600-53038000	Weak transcription	Fetal Muscle Leg	muscle
44	chr19:53032600-53038200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:53032600-53038600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:53032600-53038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:53032600-53038600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:53032600-53038600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:53032600-53038600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:53032600-53038600	Weak transcription	Brain Anterior Caudate	brain

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