Variant report

Variant	esv3433050
Chromosome Location	chr19:52595705-52639973
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	ARID3A	chr19:52603068-52603334	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:52598763-52599031	HepG2	liver:	n/a	n/a
3	ATF3	chr19:52603087-52603281	HepG2	liver:	n/a	n/a
4	BHLHE40	chr19:52623118-52623120	GM12878	blood:	n/a	n/a
5	BHLHE40	chr19:52598657-52599179	GM12878	blood:	n/a	n/a
6	BHLHE40	chr19:52598521-52599141	K562	blood:	n/a	n/a
7	BRCA1	chr19:52598777-52598972	GM12878	blood:	n/a	n/a
8	CBX3	chr19:52618714-52619203	K562	blood:	n/a	n/a
9	CBX3	chr19:52600229-52600621	K562	blood:	n/a	n/a
10	CBX3	chr19:52600264-52600535	K562	blood:	n/a	n/a
11	CBX3	chr19:52618495-52619228	K562	blood:	n/a	n/a
12	CBX3	chr19:52598773-52599297	K562	blood:	n/a	n/a
13	CCNT2	chr19:52598956-52599262	K562	blood:	n/a	chr19:52599057-52599066
14	CEBPB	chr19:52603009-52603411	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr19:52603769-52603796	HepG2	liver:	n/a	n/a
16	CEBPB	chr19:52622597-52622840	A549	lung:	n/a	chr19:52622720-52622731 chr19:52622719-52622730 chr19:52622719-52622732 chr19:52622719-52622730 chr19:52622719-52622732
17	CEBPB	chr19:52603046-52603311	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:52622657-52622857	K562	blood:	n/a	chr19:52622720-52622731 chr19:52622719-52622730 chr19:52622719-52622732 chr19:52622719-52622730 chr19:52622719-52622732
19	CEBPB	chr19:52622575-52622875	IMR90	lung:	n/a	chr19:52622720-52622731 chr19:52622719-52622730 chr19:52622719-52622732 chr19:52622719-52622730 chr19:52622719-52622732
20	CEBPB	chr19:52603104-52603238	HepG2	liver:	n/a	n/a
21	CEBPB	chr19:52622651-52622887	HepG2	liver:	n/a	chr19:52622720-52622731 chr19:52622719-52622730 chr19:52622719-52622732 chr19:52622719-52622730 chr19:52622719-52622732
22	CEBPB	chr19:52615649-52615889	A549	lung:	n/a	chr19:52615715-52615726 chr19:52615717-52615726 chr19:52615716-52615727
23	CEBPB	chr19:52615596-52615866	HepG2	liver:	n/a	chr19:52615715-52615726 chr19:52615717-52615726 chr19:52615716-52615727
24	CHD1	chr19:52598628-52598878	GM12878	blood:	n/a	n/a
25	CHD2	chr19:52598819-52599262	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr19:52598645-52599142	HepG2	liver:	n/a	n/a
27	CHD2	chr19:52598859-52599030	GM12878	blood:	n/a	n/a
28	CREB1	chr19:52598816-52599233	A549	lung:	n/a	n/a
29	CTCF	chr19:52599020-52599170	Caco-2	colon:	n/a	chr19:52599051-52599064 chr19:52599151-52599167
30	CTCF	chr19:52598480-52598630	AG04449	skin:	n/a	chr19:52598610-52598619 chr19:52598502-52598518
31	CTCF	chr19:52599120-52599270	GM12868	blood:	n/a	chr19:52599151-52599167 chr19:52599212-52599221
32	CTCF	chr19:52599060-52599210	WERI-Rb-1	eye:	n/a	chr19:52599151-52599167
33	CTCF	chr19:52598900-52599050	Caco-2	colon:	n/a	n/a
34	CTCF	chr19:52599094-52599164	GM12891	blood:	n/a	n/a
35	CTCF	chr19:52599020-52599170	SK-N-SH_RA	brain:	n/a	chr19:52599051-52599064 chr19:52599151-52599167
36	CTCF	chr19:52598460-52598610	AG09319	gingival:	n/a	chr19:52598502-52598518
37	CTCF	chr19:52599040-52599190	BJ	skin:	n/a	chr19:52599051-52599064 chr19:52599151-52599167
38	CTCF	chr19:52599140-52599290	AG09309	skin:	n/a	chr19:52599151-52599167 chr19:52599212-52599221
39	CTCF	chr19:52598580-52598730	GM12878	blood:	n/a	chr19:52598610-52598619
40	CTCF	chr19:52598380-52598530	GM12871	blood:	n/a	chr19:52598502-52598518
41	CTCF	chr19:52599060-52599210	AG04449	skin:	n/a	chr19:52599151-52599167
42	CTCF	chr19:52599060-52599210	HBMEC	blood vessel:	n/a	chr19:52599151-52599167
43	CTCF	chr19:52599124-52599143	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:52598400-52598550	GM12873	blood:	n/a	chr19:52598502-52598518
45	CTCF	chr19:52599020-52599170	GM06990	blood:	n/a	chr19:52599051-52599064 chr19:52599151-52599167
46	CTCF	chr19:52598980-52599192	Spleen_OC	spleen:	n/a	chr19:52599051-52599064 chr19:52599151-52599167
47	CTCF	chr19:52599040-52599190	AG04449	skin:	n/a	chr19:52599051-52599064 chr19:52599151-52599167
48	CTCF	chr19:52598460-52598610	HCFaa	heart:	n/a	chr19:52598502-52598518
49	CTCF	chr19:52599040-52599190	GM12874	blood:	n/a	chr19:52599051-52599064 chr19:52599151-52599167
50	CTCF	chr19:52599020-52599170	K562	blood:	n/a	chr19:52599051-52599064 chr19:52599151-52599167

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52598999-52599049	AG04450	lung:	fetal
2	chr19:52598999-52599049	AG04450	lung:	fetal
3	chr19:52618714-52618764	IMR90	lung:	fetal
4	chr19:52599190-52599240	GM19239	blood:	n/a
5	chr19:52598983-52599033	HEK293	kidney:	embryo
6	chr19:52634101-52634151	SK-N-MC	brain:	n/a
7	chr19:52639461-52639511	IMR90	lung:	fetal
8	chr19:52618714-52618764	SK-N-SH_RA	brain:	n/a
9	chr19:52634101-52634151	HMEC	breast:	n/a
10	chr19:52599226-52599276	AG04449	skin:	fetal
11	chr19:52602607-52602657	MCF10A-Er-Src	breast:	n/a
12	chr19:52595995-52596045	Jurkat	blood:	n/a
13	chr19:52599256-52599306	NH-A	brain:	n/a
14	chr19:52634101-52634151	BE2_C	brain:	n/a
15	chr19:52598653-52598703	SKMC	muscle:	n/a
16	chr19:52618714-52618764	Hela-S3	cervix:	n/a
17	chr19:52599329-52599379	NT2-D1	testis:	n/a
18	chr19:52602607-52602657	AG09319	gingival:	n/a
19	chr19:52598653-52598703	SK-N-SH_RA	brain:	n/a
20	chr19:52599226-52599276	HCM	heart:	n/a
21	chr19:52634101-52634151	ProgFib	skin:	n/a
22	chr19:52598653-52598703	GM12878	blood:	n/a
23	chr19:52602607-52602657	NHDF-neo	bronchial:	n/a
24	chr19:52598999-52599049	HCT-116	colon:	n/a
25	chr19:52617816-52617866	BJ	skin:	n/a
26	chr19:52618714-52618764	SK-N-SH	brain:	n/a
27	chr19:52602607-52602657	HepG2	liver:	n/a
28	chr19:52599232-52599282	MCF-7	breast:	n/a
29	chr19:52639461-52639511	ovcar-3	ovarian:	n/a
30	chr19:52598999-52599049	U87	brain:	n/a
31	chr19:52602607-52602657	NH-A	brain:	n/a
32	chr19:52598999-52599049	GM12878	blood:	n/a
33	chr19:52639461-52639511	HEEpiC	esophagus:	n/a
34	chr19:52639461-52639511	HL-60	blood:	n/a
35	chr19:52599232-52599282	BJ	skin:	n/a
36	chr19:52599226-52599276	SK-N-SH_RA	brain:	n/a
37	chr19:52618714-52618764	HEK293	kidney:	embryo
38	chr19:52595995-52596045	NHBE	bronchial:	n/a
39	chr19:52599190-52599240	HCM	heart:	n/a
40	chr19:52599190-52599240	AG10803	skin:	n/a
41	chr19:52599226-52599276	AG09319	gingival:	n/a
42	chr19:52617816-52617866	H1-hESC	embryonic stem cell:	embryo
43	chr19:52595995-52596045	BE2_C	brain:	n/a
44	chr19:52599226-52599276	HMEC	breast:	n/a
45	chr19:52599329-52599379	A549	lung:	n/a
46	chr19:52599232-52599282	Caco-2	colon:	n/a
47	chr19:52598653-52598703	AG04450	lung:	fetal
48	chr19:52639461-52639511	AG10803	skin:	n/a
49	chr19:52598715-52598765	BJ	skin:	n/a
50	chr19:52599256-52599306	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52598248..52599902-chr19:52638562..52641237,2	MCF-7	breast:
2	chr19:52599336..52601507-chr19:52614635..52617112,2	MCF-7	breast:
3	chr19:52636537..52639802-chr19:52640245..52644732,7	K562	blood:
4	chr19:52597539..52600047-chr19:52619565..52622106,2	K562	blood:
5	chr19:52595303..52597440-chr19:52603076..52604958,2	K562	blood:
6	chr19:52594754..52596918-chr19:52597024..52599025,2	MCF-7	breast:
7	chr19:52631129..52632683-chr19:52637585..52640220,2	MCF-7	breast:
8	chr19:52633223..52639825-chr19:52641959..52644424,7	MCF-7	breast:
9	chr19:52599336..52601507-chr19:52614635..52617112,2	MCF-7	breast:
10	chr19:52613950..52617876-chr19:52619637..52624173,4	K562	blood:
11	chr19:52551202..52553746-chr19:52596231..52599092,3	K562	blood:
12	chr19:52631135..52633164-chr19:52639000..52640822,2	K562	blood:
13	chr19:52631135..52633164-chr19:52639000..52640822,2	K562	blood:
14	chr19:52364218..52366418-chr19:52619578..52622239,2	K562	blood:
15	chr19:52638083..52640348-chr19:52693399..52695139,2	MCF-7	breast:
16	chr19:52597459..52600188-chr19:52771516..52774031,2	MCF-7	breast:
17	chr19:52553424..52554983-chr19:52593022..52595719,2	K562	blood:
18	chr19:52598726..52600984-chr19:52691577..52693709,2	MCF-7	breast:
19	chr19:52632666..52634991-chr19:52642095..52643875,2	K562	blood:
20	chr19:52551129..52553978-chr19:52617464..52619426,2	K562	blood:
21	chr19:52636521..52639563-chr19:52639580..52641755,3	MCF-7	breast:
22	chr19:52597423..52599077-chr19:52692134..52694986,2	K562	blood:
23	chr19:52597551..52599096-chr19:52643130..52644965,2	K562	blood:
24	chr19:52607030..52609292-chr19:52641684..52643260,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF841-2	chr19:52598828-52598991	NONHSAT067511
2	lnc-ZNF616-1	chr19:52613571-52613979	NONHSAT067514
3	lnc-ZNF836-1	chr19:52633801-52633841	ENSG00000267827.1
4	lnc-ZNF836-1	chr19:52633817-52633841	ENSG00000267827.1

Variant related genes	Relation type
ZNF841	TF binding region
ENSG00000270248	TF binding region
ENSG00000238630	TF binding region
ZNF432	TF binding region
ZNF841	CpG island
ENSG00000270248	CpG island
ENSG00000238630	CpG island
ZNF432	CpG island
ENSG00000161551	chromatin interactions
ENSG00000270248	chromatin interactions
ENSG00000256087	chromatin interactions
ENSG00000238630	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000197608	chromatin interactions
ENSG00000105568	chromatin interactions

Extended variants
information (count: 1816 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1816 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200078583	chr19:52595725-52595726	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187798325	chr19:52595731-52595732	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201137662	chr19:52595755-52595756	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374317803	chr19:52595780-52595781	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531883011	chr19:52595798-52595799	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192316621	chr19:52595832-52595833	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557855052	chr19:52595859-52595860	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376423783	chr19:52595893-52595894	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569775222	chr19:52595920-52595921	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs4566288	chr19:52595930-52595931	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs555410812	chr19:52595952-52595953	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143228284	chr19:52595996-52595997	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541905825	chr19:52596022-52596023	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561919338	chr19:52596023-52596024	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553753363	chr19:52596042-52596043	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572068075	chr19:52596104-52596105	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529314163	chr19:52596105-52596106	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs62107527	chr19:52596111-52596112	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184419813	chr19:52596144-52596145	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372096047	chr19:52596145-52596146	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565873317	chr19:52596197-52596198	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533258932	chr19:52596230-52596231	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148386803	chr19:52596236-52596237	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs551135457	chr19:52596238-52596239	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188814041	chr19:52596250-52596251	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141572905	chr19:52596259-52596260	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs193083894	chr19:52596262-52596263	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569718645	chr19:52596281-52596282	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529562825	chr19:52596322-52596323	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376941534	chr19:52596388-52596389	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536891688	chr19:52596394-52596395	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368741330	chr19:52596429-52596430	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549159650	chr19:52596430-52596431	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567303380	chr19:52596465-52596466	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs534613324	chr19:52596510-52596511	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552814063	chr19:52596597-52596598	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572128549	chr19:52596618-52596619	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184950139	chr19:52596639-52596640	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558002961	chr19:52596660-52596661	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs576470785	chr19:52596672-52596673	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543702871	chr19:52596800-52596801	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147526394	chr19:52596855-52596856	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369089491	chr19:52596864-52596865	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574107023	chr19:52596879-52596880	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541770454	chr19:52596884-52596885	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560068337	chr19:52596885-52596886	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532992994	chr19:52596887-52596888	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551388002	chr19:52596891-52596892	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189798044	chr19:52596924-52596925	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180885598	chr19:52596936-52596937	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 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
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52561000-52597400	ZNF genes & repeats	Liver	Liver
2	chr19:52561000-52597600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:52562800-52597400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:52563600-52597400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:52563800-52597200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:52564800-52596200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr19:52565400-52597200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:52574200-52597600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:52575200-52596400	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr19:52576600-52596600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:52578200-52597800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:52580600-52596800	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr19:52582600-52596400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:52582600-52596800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr19:52582600-52597000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:52582800-52596400	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr19:52582800-52597800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:52583400-52597400	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr19:52583600-52599600	ZNF genes & repeats	GM12878-XiMat	blood
20	chr19:52585800-52597200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr19:52586400-52597800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr19:52587400-52597400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:52587600-52596200	Strong transcription	Left Ventricle	heart
24	chr19:52587600-52596400	ZNF genes & repeats	Lung	lung
25	chr19:52587600-52596800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:52587800-52596400	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr19:52588000-52597200	Weak transcription	Hela-S3	cervix
28	chr19:52588400-52596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:52589000-52596800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:52589200-52596800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr19:52589400-52597000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:52590200-52596600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr19:52590400-52597200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:52590600-52596000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr19:52590600-52596400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr19:52590800-52597000	Weak transcription	Fetal Heart	heart
37	chr19:52591000-52596000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr19:52591200-52596200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:52591200-52596400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:52591200-52597200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:52591400-52597000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr19:52591400-52597000	Weak transcription	Brain Angular Gyrus	brain
43	chr19:52591600-52597000	Weak transcription	Psoas Muscle	Psoas
44	chr19:52591800-52596200	ZNF genes & repeats	Dnd41	blood
45	chr19:52592000-52596000	ZNF genes & repeats	NHDF-Ad	bronchial
46	chr19:52592000-52596200	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr19:52592000-52596600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:52592000-52597000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:52592200-52596600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr19:52592200-52597000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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