Variant report

Variant	nsv912316
Chromosome Location	chr19:53105547-53158023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:712)
CpG islands
(count:855)
Chromatin interactive
region (count:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53141435-53141564	K562	blood:	n/a	n/a
2	ATF1	chr19:53150020-53150354	K562	blood:	n/a	n/a
3	ATF2	chr19:53141325-53141694	GM12878	blood:	n/a	n/a
4	BACH1	chr19:53115944-53116444	K562	blood:	n/a	n/a
5	BACH1	chr19:53141538-53141574	K562	blood:	n/a	n/a
6	BCL11A	chr19:53143129-53143365	GM12878	blood:	n/a	n/a
7	BCLAF1	chr19:53141115-53141672	GM12878	blood:	n/a	chr19:53141336-53141345
8	BCLAF1	chr19:53141256-53141655	GM12878	blood:	n/a	chr19:53141336-53141345
9	BHLHE40	chr19:53141335-53141727	GM12878	blood:	n/a	n/a
10	BHLHE40	chr19:53141339-53141678	K562	blood:	n/a	n/a
11	CBX3	chr19:53150055-53150488	HCT-116	colon:	n/a	n/a
12	CBX3	chr19:53150111-53150413	K562	blood:	n/a	n/a
13	CBX3	chr19:53116892-53117212	K562	blood:	n/a	n/a
14	CBX3	chr19:53149990-53150565	HCT-116	colon:	n/a	n/a
15	CBX3	chr19:53150016-53150408	K562	blood:	n/a	n/a
16	CBX3	chr19:53141151-53141942	K562	blood:	n/a	n/a
17	CCNT2	chr19:53141473-53141801	K562	blood:	n/a	chr19:53141683-53141692
18	CEBPB	chr19:53130295-53130394	K562	blood:	n/a	n/a
19	CEBPB	chr19:53116900-53117181	K562	blood:	n/a	chr19:53117150-53117161
20	CEBPB	chr19:53116972-53117352	IMR90	lung:	n/a	chr19:53117150-53117161
21	CEBPB	chr19:53117009-53117342	A549	lung:	n/a	chr19:53117150-53117161
22	CEBPB	chr19:53116964-53117295	HepG2	liver:	n/a	chr19:53117150-53117161
23	CEBPB	chr19:53156509-53156709	HepG2	liver:	n/a	chr19:53156597-53156608
24	CEBPB	chr19:53118404-53118702	K562	blood:	n/a	n/a
25	CEBPB	chr19:53107089-53107422	IMR90	lung:	n/a	chr19:53107272-53107285 chr19:53107272-53107283
26	CEBPB	chr19:53149990-53150363	K562	blood:	n/a	n/a
27	CEBPD	chr19:53141013-53141270	HepG2	liver:	n/a	n/a
28	CHD1	chr19:53141329-53141570	GM12878	blood:	n/a	n/a
29	CHD2	chr19:53110034-53110081	K562	blood:	n/a	n/a
30	CHD2	chr19:53141130-53141717	GM12878	blood:	n/a	chr19:53141684-53141694 chr19:53141292-53141302
31	CHD2	chr19:53141120-53141701	Hela-S3	cervix:	n/a	chr19:53141684-53141694 chr19:53141292-53141302
32	CTCF	chr19:53125528-53125891	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr19:53125680-53125834	IMR90	lung:	n/a	n/a
34	CTCF	chr19:53125700-53125850	HepG2	liver:	n/a	n/a
35	CTCF	chr19:53125704-53125727	GM19238	blood:	n/a	n/a
36	CTCF	chr19:53125562-53125846	K562	blood:	n/a	n/a
37	CTCF	chr19:53125678-53125759	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr19:53141480-53141630	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr19:53141342-53141347	GM12878	blood:	n/a	n/a
40	CTCF	chr19:53125640-53125790	HCFaa	heart:	n/a	n/a
41	CTCF	chr19:53125561-53125794	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr19:53141101-53141103	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr19:53141360-53141510	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr19:53125583-53125762	HepG2	liver:	n/a	n/a
45	CTCF	chr19:53125680-53125830	SAEC	small airway:	n/a	n/a
46	CTCF	chr19:53125580-53125730	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr19:53125671-53125778	Lung_OC	lung:	n/a	n/a
48	CTCF	chr19:53125620-53125770	K562	blood:	n/a	n/a
49	CTCF	chr19:53125620-53125770	HMEC	breast:	n/a	n/a
50	CTCF	chr19:53117180-53117330	NHDF-neo	bronchial:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53107200-53107250	AG09319	gingival:	n/a
2	chr19:53107200-53107250	AG09319	gingival:	n/a
3	chr19:53140973-53141023	NB4	blood:	n/a
4	chr19:53141372-53141422	PrEC	prostate:	n/a
5	chr19:53141793-53141843	HRCEpiC	kidney:	n/a
6	chr19:53141372-53141422	AG09319	gingival:	n/a
7	chr19:53142106-53142156	PrEC	prostate:	n/a
8	chr19:53140973-53141023	GM12878	blood:	n/a
9	chr19:53142304-53142354	AG09319	gingival:	n/a
10	chr19:53139159-53139209	LNCaP	prostate:	n/a
11	chr19:53107200-53107250	GM12878	blood:	n/a
12	chr19:53141372-53141422	A549	lung:	n/a
13	chr19:53117087-53117137	NB4	blood:	n/a
14	chr19:53141745-53141795	HNPCEpiC	eye:	n/a
15	chr19:53141620-53141670	SKMC	muscle:	n/a
16	chr19:53141793-53141843	CMK	blood:	n/a
17	chr19:53141394-53141444	AoSMC	blood vessel:	n/a
18	chr19:53141372-53141422	HepG2	liver:	n/a
19	chr19:53140973-53141023	NHDF-neo	bronchial:	n/a
20	chr19:53141793-53141843	HCF	heart:	n/a
21	chr19:53117087-53117137	NHDF-neo	bronchial:	n/a
22	chr19:53144247-53144297	AG04449	skin:	fetal
23	chr19:53141372-53141422	HRE	kidney:	n/a
24	chr19:53141620-53141670	PrEC	prostate:	n/a
25	chr19:53144247-53144297	NT2-D1	testis:	n/a
26	chr19:53141620-53141670	GM19239	blood:	n/a
27	chr19:53140973-53141023	H1-hESC	embryonic stem cell:	embryo
28	chr19:53141620-53141670	HUVEC	blood vessel:	n/a
29	chr19:53144247-53144297	ovcar-3	ovarian:	n/a
30	chr19:53141793-53141843	HUVEC	blood vessel:	n/a
31	chr19:53144247-53144297	PANC-1	pancreas:	n/a
32	chr19:53141372-53141422	HAEpiC	amniotic membrane:	n/a
33	chr19:53139159-53139209	HEK293	kidney:	embryo
34	chr19:53140973-53141023	T-47D	breast:	n/a
35	chr19:53141394-53141444	HCPEpiC	choroid plexus:	n/a
36	chr19:53141778-53141828	ECC-1	luminal epithelium:	n/a
37	chr19:53141372-53141422	IMR90	lung:	fetal
38	chr19:53141745-53141795	ECC-1	luminal epithelium:	n/a
39	chr19:53144247-53144297	HCPEpiC	choroid plexus:	n/a
40	chr19:53141620-53141670	ovcar-3	ovarian:	n/a
41	chr19:53107200-53107250	ECC-1	luminal epithelium:	n/a
42	chr19:53141620-53141670	T-47D	breast:	n/a
43	chr19:53141778-53141828	GM12878	blood:	n/a
44	chr19:53141778-53141828	HepG2	liver:	n/a
45	chr19:53142304-53142354	PANC-1	pancreas:	n/a
46	chr19:53140973-53141023	HL-60	blood:	n/a
47	chr19:53141778-53141828	HCPEpiC	choroid plexus:	n/a
48	chr19:53142146-53142196	SK-N-SH	brain:	n/a
49	chr19:53139159-53139209	HCPEpiC	choroid plexus:	n/a
50	chr19:53142146-53142196	BJ	skin:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53100919..53102551-chr19:53104466..53106179,2	MCF-7	breast:
2	chr19:53115087..53117490-chr19:53126115..53129040,2	K562	blood:
3	chr19:53143960..53145524-chr19:53164055..53166816,2	K562	blood:
4	chr19:53110675..53112715-chr19:53114135..53115659,2	K562	blood:
5	chr19:53109944..53111454-chr19:53116244..53117812,2	K562	blood:
6	chr19:53124557..53126496-chr19:53127801..53130626,2	K562	blood:
7	chr19:53091479..53093203-chr19:53104357..53107211,2	MCF-7	breast:
8	chr19:53115970..53118193-chr19:53236786..53238588,2	K562	blood:
9	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:
10	chr19:53100001..53102540-chr19:53104328..53106583,2	MCF-7	breast:
11	chr19:53104394..53106484-chr19:53154672..53157186,2	K562	blood:
12	chr19:53128911..53130963-chr19:53136725..53138232,2	K562	blood:
13	chr19:53030382..53031999-chr19:53102744..53106373,4	K562	blood:
14	chr19:53128911..53130963-chr19:53136725..53138232,2	K562	blood:
15	chr19:53124557..53126496-chr19:53127801..53130626,2	K562	blood:
16	chr19:53139623..53144311-chr19:53192220..53194807,4	MCF-7	breast:
17	chr19:53148354..53151033-chr19:53154176..53155920,2	K562	blood:
18	chr19:53138548..53141148-chr19:53148838..53150932,2	K562	blood:
19	chr19:53110484..53113305-chr19:53117534..53120246,3	K562	blood:
20	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:
21	chr19:53115087..53117490-chr19:53126115..53129040,2	K562	blood:
22	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:
23	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:
24	chr19:53148354..53151033-chr19:53154176..53155920,2	K562	blood:
25	chr19:53105962..53107575-chr19:53107742..53110699,2	MCF-7	breast:
26	chr19:53105962..53107575-chr19:53107742..53110699,2	MCF-7	breast:
27	chr19:52771721..52774334-chr19:53104602..53106334,2	MCF-7	breast:
28	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:
29	chr19:53109944..53111454-chr19:53116244..53117812,2	K562	blood:
30	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
31	chr19:53109653..53111853-chr19:53175457..53178162,2	K562	blood:
32	chr19:53110675..53112715-chr19:53114135..53115659,2	K562	blood:
33	chr19:53141360..53143345-chr19:53143350..53145363,3	K562	blood:
34	chr19:53149533..53152778-chr19:53154420..53157722,3	K562	blood:
35	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:
36	chr19:52406735..52408758-chr19:53114766..53117318,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF611-1	chr19:53153690-53156537	ENSG00000269825.1

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF83	hsa-miR-155-5p	chr19:53116240-53116261
2	ZNF83	hsa-miR-155-5p	chr19:53115871-53115891

Variant related genes	Relation type
ENSG00000269825	TF binding region
ENSG00000268970	TF binding region
ZNF83	TF binding region
ENSG00000269825	CpG island
ENSG00000268970	CpG island
ZNF83	CpG island
ENSG00000269825	chromatin interactions
ENSG00000198093	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000170949	chromatin interactions
ENSG00000213020	chromatin interactions
ENSG00000123870	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000268970	chromatin interactions
ENSG00000198482	chromatin interactions

Extended variants
information (count: 2664 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2664 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs329973	chr19:53105547-53105548	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10409088	chr19:53105557-53105558	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565635247	chr19:53105587-53105588	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs183883949	chr19:53105591-53105592	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs371585703	chr19:53105625-53105626	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs577167808	chr19:53105626-53105627	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs544422434	chr19:53105631-53105632	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs186871246	chr19:53105682-53105683	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs141071109	chr19:53105731-53105732	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs543136727	chr19:53105766-53105767	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs561224471	chr19:53105770-53105771	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs200592312	chr19:53105824-53105825	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs537316082	chr19:53105840-53105841	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs11671742	chr19:53105855-53105856	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs78007868	chr19:53105895-53105896	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs10414575	chr19:53105898-53105899	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565243503	chr19:53105906-53105907	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs11671771	chr19:53105925-53105926	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs191280485	chr19:53105944-53105945	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs374961469	chr19:53105965-53105966	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs550911903	chr19:53105979-53105980	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs77555774	chr19:53105985-53105986	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs112307874	chr19:53105986-53105987	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs72018148	chr19:53105987-53105988	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs78296081	chr19:53105988-53105989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs79470410	chr19:53105989-53105990	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs80275542	chr19:53105990-53105991	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs75767104	chr19:53105991-53105992	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs67941747	chr19:53106008-53106009	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs11882243	chr19:53106022-53106023	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs116327587	chr19:53106043-53106044	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs548310711	chr19:53106058-53106059	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs566560903	chr19:53106062-53106063	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs115682944	chr19:53106063-53106064	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs552688031	chr19:53106075-53106076	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs556625421	chr19:53106080-53106081	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs558541638	chr19:53106090-53106091	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs570781778	chr19:53106104-53106105	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs538108063	chr19:53106149-53106150	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs146769933	chr19:53106180-53106181	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs570027975	chr19:53106196-53106197	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs574622761	chr19:53106377-53106378	Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs329972	chr19:53106395-53106396	Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs541651324	chr19:53106398-53106399	Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112617290	chr19:53106402-53106403	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs369695714	chr19:53106420-53106421	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs329971	chr19:53106428-53106429	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs329970	chr19:53106436-53106437	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs329969	chr19:53106442-53106443	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs185599707	chr19:53106475-53106476	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2061 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53103400-53105600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:53103600-53105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:53103600-53105800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:53103800-53105600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:53103800-53105600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:53103800-53105600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:53103800-53105600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:53103800-53105600	Active TSS	Fetal Kidney	kidney
9	chr19:53103800-53105600	Active TSS	GM12878-XiMat	blood
10	chr19:53104000-53105600	Active TSS	Fetal Intestine Large	intestine
11	chr19:53104000-53105600	Active TSS	HepG2	liver
12	chr19:53104000-53105800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:53104000-53106000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:53104000-53106000	Active TSS	Fetal Intestine Small	intestine
15	chr19:53104000-53106200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:53104200-53105600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:53104200-53105600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:53104200-53105600	Active TSS	Thymus	Thymus
19	chr19:53104200-53105800	Active TSS	Rectal Smooth Muscle	rectum
20	chr19:53104600-53105600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:53104600-53105600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr19:53104600-53105600	Flanking Active TSS	HMEC	breast
23	chr19:53104600-53105800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:53104800-53105600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:53104800-53105600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr19:53104800-53105600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:53104800-53105600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:53104800-53105600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr19:53104800-53105800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr19:53104800-53105800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:53105000-53105600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr19:53105000-53105600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr19:53105000-53105600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr19:53105000-53105600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:53105000-53105600	Flanking Active TSS	Colonic Mucosa	Colon
36	chr19:53105000-53105600	Flanking Active TSS	Gastric	stomach
37	chr19:53105000-53105600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:53105000-53105600	Flanking Active TSS	Osteobl	bone
39	chr19:53105000-53105800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr19:53105000-53105800	Flanking Active TSS	Dnd41	blood
41	chr19:53105000-53105800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr19:53105000-53115800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:53105200-53105600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:53105200-53105600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:53105200-53105600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:53105200-53105600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr19:53105200-53105600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:53105200-53105600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:53105200-53105600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:53105200-53105600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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