Variant report

Variant	esv1794901
Chromosome Location	chr19:45681661-45690775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:904)
CpG islands
(count:855)
Chromatin interactive
region (count:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45681621-45682077	K562	blood:	n/a	n/a
2	ARID3A	chr19:45690076-45690356	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:45681488-45682369	HepG2	liver:	n/a	n/a
4	ATF1	chr19:45681004-45682199	K562	blood:	n/a	n/a
5	ATF2	chr19:45680892-45682228	GM12878	blood:	n/a	n/a
6	ATF3	chr19:45681519-45682167	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
7	ATF3	chr19:45681512-45682044	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
8	ATF3	chr19:45681371-45682278	K562	blood:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
9	BCL3	chr19:45681211-45682392	A549	lung:	n/a	n/a
10	BCL3	chr19:45680734-45682586	A549	lung:	n/a	n/a
11	BHLHE40	chr19:45681127-45682679	HepG2	liver:	n/a	chr19:45682072-45682088
12	BHLHE40	chr19:45690233-45690342	HepG2	liver:	n/a	n/a
13	BHLHE40	chr19:45681463-45682616	A549	lung:	n/a	chr19:45682072-45682088
14	BHLHE40	chr19:45681236-45682748	GM12878	blood:	n/a	chr19:45682072-45682088
15	BHLHE40	chr19:45680931-45683148	K562	blood:	n/a	chr19:45682072-45682088
16	BRCA1	chr19:45681523-45682223	GM12878	blood:	n/a	n/a
17	BRCA1	chr19:45682164-45682559	HepG2	liver:	n/a	n/a
18	BRCA1	chr19:45681173-45682297	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr19:45681243-45682890	K562	blood:	n/a	n/a
20	CCNT2	chr19:45681299-45682206	K562	blood:	n/a	n/a
21	CCNT2	chr19:45682473-45683161	K562	blood:	n/a	n/a
22	CEBPB	chr19:45681048-45682141	MCF-7	breast:	n/a	n/a
23	CEBPB	chr19:45681322-45682131	K562	blood:	n/a	n/a
24	CEBPB	chr19:45681219-45682117	HepG2	liver:	n/a	n/a
25	CEBPB	chr19:45681419-45681951	A549	lung:	n/a	n/a
26	CEBPB	chr19:45681306-45681973	MCF-7	breast:	n/a	n/a
27	CEBPB	chr19:45681061-45682118	A549	lung:	n/a	n/a
28	CEBPB	chr19:45690135-45690284	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:45681144-45682214	K562	blood:	n/a	n/a
30	CEBPB	chr19:45681431-45681838	HepG2	liver:	n/a	n/a
31	CEBPB	chr19:45681010-45682133	IMR90	lung:	n/a	n/a
32	CEBPB	chr19:45681148-45682188	HepG2	liver:	n/a	n/a
33	CEBPB	chr19:45681430-45681812	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:45681392-45681867	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr19:45681025-45682247	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr19:45681106-45682206	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr19:45681189-45682144	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr19:45681009-45682042	A549	lung:	n/a	n/a
39	CEBPB	chr19:45681374-45681882	K562	blood:	n/a	n/a
40	CEBPD	chr19:45681310-45681900	K562	blood:	n/a	n/a
41	CEBPD	chr19:45681308-45681751	HepG2	liver:	n/a	n/a
42	CEBPD	chr19:45681417-45681786	HepG2	liver:	n/a	n/a
43	CEBPZ	chr19:45681689-45682009	HepG2	liver:	n/a	n/a
44	CHD1	chr19:45682495-45682952	GM12878	blood:	n/a	n/a
45	CHD1	chr19:45680380-45683531	IMR90	lung:	n/a	chr19:45681612-45681622
46	CHD1	chr19:45682017-45682267	GM12878	blood:	n/a	n/a
47	CHD2	chr19:45681089-45682323	Hela-S3	cervix:	n/a	chr19:45681612-45681622
48	CHD2	chr19:45681300-45682227	K562	blood:	n/a	chr19:45681612-45681622
49	CHD2	chr19:45682730-45682740	HepG2	liver:	n/a	n/a
50	CHD2	chr19:45682671-45683167	Hela-S3	cervix:	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	chr19:45681716-45681766	SK-N-SH	brain:	n/a
2	chr19:45681716-45681766	SK-N-SH	brain:	n/a
3	chr19:45681968-45682018	NB4	blood:	n/a
4	chr19:45681828-45681878	AG09309	skin:	n/a
5	chr19:45681945-45681995	HIPEpiC	eye:	n/a
6	chr19:45683263-45683313	ECC-1	luminal epithelium:	n/a
7	chr19:45682064-45682114	HepG2	liver:	n/a
8	chr19:45681846-45681896	SKMC	muscle:	n/a
9	chr19:45681716-45681766	HRCEpiC	kidney:	n/a
10	chr19:45682841-45682891	IMR90	lung:	fetal
11	chr19:45681716-45681766	HIPEpiC	eye:	n/a
12	chr19:45681716-45681766	SKMC	muscle:	n/a
13	chr19:45681899-45681949	HCM	heart:	n/a
14	chr19:45681945-45681995	HCF	heart:	n/a
15	chr19:45682064-45682114	GM19239	blood:	n/a
16	chr19:45681987-45682037	Hela-S3	cervix:	n/a
17	chr19:45682064-45682114	SKMC	muscle:	n/a
18	chr19:45682064-45682114	Caco-2	colon:	n/a
19	chr19:45681945-45681995	IMR90	lung:	fetal
20	chr19:45683263-45683313	AG10803	skin:	n/a
21	chr19:45681987-45682037	AoSMC	blood vessel:	n/a
22	chr19:45682064-45682114	HUVEC	blood vessel:	n/a
23	chr19:45681716-45681766	MCF10A-Er-Src	breast:	n/a
24	chr19:45681987-45682037	U87	brain:	n/a
25	chr19:45681987-45682037	H1-hESC	embryonic stem cell:	embryo
26	chr19:45682354-45682404	BE2_C	brain:	n/a
27	chr19:45683263-45683313	PANC-1	pancreas:	n/a
28	chr19:45681899-45681949	GM12892	blood:	n/a
29	chr19:45685312-45685362	IMR90	lung:	fetal
30	chr19:45681846-45681896	PFSK-1	brain:	n/a
31	chr19:45681945-45681995	NB4	blood:	n/a
32	chr19:45682841-45682891	HNPCEpiC	eye:	n/a
33	chr19:45682354-45682404	HUVEC	blood vessel:	n/a
34	chr19:45681846-45681896	NB4	blood:	n/a
35	chr19:45682064-45682114	HRCEpiC	kidney:	n/a
36	chr19:45683263-45683313	HRPEpiC	eye:	n/a
37	chr19:45682354-45682404	HepG2	liver:	n/a
38	chr19:45682354-45682404	ProgFib	skin:	n/a
39	chr19:45683155-45683205	HUVEC	blood vessel:	n/a
40	chr19:45681716-45681766	GM12878	blood:	n/a
41	chr19:45682064-45682114	HEEpiC	esophagus:	n/a
42	chr19:45685312-45685362	PrEC	prostate:	n/a
43	chr19:45683263-45683313	GM12891	blood:	n/a
44	chr19:45685312-45685362	GM12892	blood:	n/a
45	chr19:45682841-45682891	HCM	heart:	n/a
46	chr19:45681716-45681766	HRE	kidney:	n/a
47	chr19:45681968-45682018	SKMC	muscle:	n/a
48	chr19:45681987-45682037	GM19239	blood:	n/a
49	chr19:45685312-45685362	NT2-D1	testis:	n/a
50	chr19:45681987-45682037	HUVEC	blood vessel:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45581068..45583958-chr19:45681428..45684016,2	K562	blood:
2	chr19:45681162..45683480-chr19:45842144..45844672,3	K562	blood:
3	chr19:45594892..45596535-chr19:45681783..45683354,2	MCF-7	breast:
4	chr19:45594874..45597676-chr19:45681810..45683655,2	K562	blood:
5	chr11:69061460..69062140-chr19:45681721..45682573,2	HCT-116	colon:
6	chr19:45594586..45596499-chr19:45682181..45685187,4	MCF-7	breast:
7	chr19:45663246..45665913-chr19:45689234..45691618,2	MCF-7	breast:
8	chr19:45680180..45683713-chr19:45733323..45737109,3	K562	blood:
9	chr19:45652567..45654233-chr19:45681921..45683559,2	MCF-7	breast:
10	chr19:45679504..45683518-chr19:45685241..45688488,5	MCF-7	breast:
11	chr19:45684774..45686419-chr19:45697877..45700267,2	MCF-7	breast:
12	chr19:45679504..45683518-chr19:45685241..45688488,5	MCF-7	breast:
13	chr19:45662322..45668242-chr19:45680645..45684470,7	K562	blood:
14	chr19:45655086..45657605-chr19:45680853..45682730,2	MCF-7	breast:
15	chr19:45639686..45641880-chr19:45681901..45684356,2	MCF-7	breast:
16	chr19:45681420..45684587-chr19:45687242..45692393,7	MCF-7	breast:
17	chr19:45680559..45684359-chr19:45688843..45692525,5	MCF-7	breast:
18	chr19:45684922..45687661-chr19:45687892..45690396,2	MCF-7	breast:
19	chr19:45594755..45598539-chr19:45681810..45685400,4	K562	blood:
20	chr19:45658848..45663469-chr19:45680259..45684163,6	MCF-7	breast:
21	chr19:45682254..45683005-chr6:26156173..26156727,2	Hela-S3	cervix:
22	chr19:45681420..45684587-chr19:45687242..45692393,7	MCF-7	breast:
23	chr19:45662322..45663842-chr19:45681568..45683237,2	K562	blood:
24	chr17:16341750..16342479-chr19:45681510..45682384,2	Hela-S3	cervix:
25	chr19:45503982..45506844-chr19:45681115..45683310,3	K562	blood:
26	chr19:45680559..45684359-chr19:45688843..45692525,5	MCF-7	breast:
27	chr19:45654421..45658397-chr19:45679888..45682724,3	K562	blood:
28	chr19:45541123..45542652-chr19:45681977..45683668,2	MCF-7	breast:
29	chr19:45644450..45646816-chr19:45679774..45683109,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAPPC6A-1	chr19:45688162-45688190	NONHSAT066767
2	lnc-TRAPPC6A-1	chr19:45687584-45687860	NONHSAT066767

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BLOC1S3	hsa-miR-378a-3p	chr19:45684405-45684426

Variant related genes	Relation type
ENSG00000266958	TF binding region
ENSG00000267545	TF binding region
BLOC1S3	TF binding region
ENSG00000225157	TF binding region
TRAPPC6A	TF binding region
ENSG00000266958	CpG island
ENSG00000267545	CpG island
BLOC1S3	CpG island
ENSG00000225157	CpG island
TRAPPC6A	CpG island
ENSG00000104856	chromatin interactions
ENSG00000225157	chromatin interactions
ENSG00000267044	chromatin interactions
ENSG00000172927	chromatin interactions
ENSG00000268341	chromatin interactions
ENSG00000104892	chromatin interactions
ENSG00000189114	chromatin interactions
ENSG00000104866	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000179846	chromatin interactions
ENSG00000007047	chromatin interactions
ENSG00000007255	chromatin interactions
ENSG00000104859	chromatin interactions
ENSG00000267037	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000266958	chromatin interactions
ENSG00000142252	chromatin interactions
ENSG00000130201	chromatin interactions
ENSG00000267545	chromatin interactions

Extended variants
information (count: 413 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561147041	chr19:45681662-45681663	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs530000039	chr19:45681672-45681673	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs145646892	chr19:45681686-45681687	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs537057751	chr19:45681693-45681694	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs541502855	chr19:45681705-45681706	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs56213215	chr19:45681708-45681709	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7249681	chr19:45681782-45681783	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs148109534	chr19:45681806-45681807	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs571382543	chr19:45681818-45681819	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs190114415	chr19:45681837-45681838	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs553805004	chr19:45681878-45681879	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs142628440	chr19:45681907-45681908	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs573571955	chr19:45681943-45681944	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs536238393	chr19:45681964-45681965	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs556491399	chr19:45681970-45681971	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs370457632	chr19:45681988-45681989	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs556926381	chr19:45682008-45682009	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs576806648	chr19:45682024-45682025	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs8104024	chr19:45682026-45682027	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs565339223	chr19:45682027-45682028	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs59215448	chr19:45682028-45682029	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369144610	chr19:45682038-45682039	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs116448245	chr19:45682042-45682043	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs114784352	chr19:45682051-45682052	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs543407501	chr19:45682057-45682058	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs562480723	chr19:45682058-45682059	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs373669358	chr19:45682067-45682068	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs545634026	chr19:45682074-45682075	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs116105443	chr19:45682093-45682094	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs551606732	chr19:45682115-45682116	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs571377637	chr19:45682136-45682137	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs549913562	chr19:45682195-45682196	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs527449999	chr19:45682209-45682210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs367571876	chr19:45682216-45682217	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs563933221	chr19:45682239-45682240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs547211242	chr19:45682250-45682251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs138914315	chr19:45682257-45682258	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs536301059	chr19:45682286-45682287	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs556204314	chr19:45682323-45682324	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs569622444	chr19:45682390-45682391	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs539362859	chr19:45682392-45682393	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs377341306	chr19:45682405-45682406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs572583327	chr19:45682424-45682425	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs531234887	chr19:45682435-45682436	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs541588888	chr19:45682444-45682445	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs577140583	chr19:45682448-45682449	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs554810421	chr19:45682456-45682457	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs143223636	chr19:45682501-45682502	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs376817930	chr19:45682534-45682535	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs371257240	chr19:45682540-45682541	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45680200-45683200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:45680200-45684400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:45680400-45682200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:45680400-45682800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:45680400-45683200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:45680400-45683200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:45680400-45683200	Active TSS	GM12878-XiMat	blood
8	chr19:45680400-45683200	Active TSS	Hela-S3	cervix
9	chr19:45680400-45683400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:45680400-45683600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:45680400-45683600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr19:45680400-45683600	Active TSS	K562	blood
13	chr19:45680400-45683800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:45680600-45683000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:45680600-45683000	Active TSS	Osteobl	bone
16	chr19:45680600-45683200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:45680600-45683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:45680600-45683200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr19:45680600-45683200	Active TSS	Fetal Intestine Large	intestine
20	chr19:45680600-45683400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr19:45680600-45683400	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:45680600-45683600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:45680600-45683600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:45680600-45683600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:45680800-45682200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:45680800-45682400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:45680800-45682600	Active TSS	Fetal Kidney	kidney
28	chr19:45680800-45683000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:45680800-45683000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:45680800-45683000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:45680800-45683000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:45680800-45683000	Active TSS	Right Atrium	heart
33	chr19:45680800-45683200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr19:45680800-45683200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:45680800-45683200	Active TSS	Psoas Muscle	Psoas
36	chr19:45680800-45683200	Active TSS	NHDF-Ad	bronchial
37	chr19:45680800-45683200	Active TSS	NHLF	lung
38	chr19:45680800-45683400	Active TSS	Ovary	ovary
39	chr19:45680800-45683600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr19:45681000-45682000	Active TSS	Brain Germinal Matrix	brain
41	chr19:45681000-45682200	Active TSS	Colonic Mucosa	Colon
42	chr19:45681000-45682200	Active TSS	Fetal Muscle Trunk	muscle
43	chr19:45681000-45682400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr19:45681000-45682600	Active TSS	Pancreas	Pancrea
45	chr19:45681000-45682600	Bivalent/Poised TSS	HepG2	liver
46	chr19:45681000-45682800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:45681000-45682800	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr19:45681000-45682800	Active TSS	Right Ventricle	heart
49	chr19:45681000-45682800	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr19:45681000-45683000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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