Variant report

Variant	esv3430654
Chromosome Location	chr19:55864590-55867488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:977)
Chromatin interactive
region (count:17)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:55865175-55865377	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:55865173-55865372	K562	blood:	n/a	n/a
3	BACH1	chr19:55865703-55866205	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr19:55865154-55865394	K562	blood:	n/a	n/a
5	BRCA1	chr19:55865139-55865183	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr19:55865670-55865987	K562	blood:	n/a	n/a
7	CBX3	chr19:55865076-55865472	K562	blood:	n/a	n/a
8	CCNT2	chr19:55865117-55865572	K562	blood:	n/a	n/a
9	CHD2	chr19:55865441-55865512	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr19:55865220-55865370	AG04449	skin:	n/a	n/a
11	CTCF	chr19:55865887-55865987	NHEK	skin:	n/a	n/a
12	CTCF	chr19:55865100-55865250	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr19:55865895-55865927	GM12891	blood:	n/a	n/a
14	CTCF	chr19:55865800-55865950	AG04449	skin:	n/a	n/a
15	CTCF	chr19:55866060-55866210	K562	blood:	n/a	n/a
16	E2F6	chr19:55864796-55864971	K562	blood:	n/a	n/a
17	E2F6	chr19:55866093-55866381	K562	blood:	n/a	n/a
18	E2F6	chr19:55865108-55865535	K562	blood:	n/a	chr19:55865340-55865349
19	E2F6	chr19:55864933-55865933	A549	lung:	n/a	chr19:55865340-55865349
20	E2F6	chr19:55865597-55866022	K562	blood:	n/a	chr19:55865945-55865959
21	E2F6	chr19:55865056-55865494	K562	blood:	n/a	chr19:55865340-55865349
22	EGR1	chr19:55866528-55866753	K562	blood:	n/a	n/a
23	EGR1	chr19:55866564-55866810	K562	blood:	n/a	n/a
24	EGR1	chr19:55866170-55866492	K562	blood:	n/a	chr19:55866195-55866208
25	EGR1	chr19:55866129-55866406	K562	blood:	n/a	chr19:55866195-55866208
26	ELF1	chr19:55865062-55865411	K562	blood:	n/a	n/a
27	ELF1	chr19:55865100-55865417	K562	blood:	n/a	n/a
28	ELF1	chr19:55865640-55866039	K562	blood:	n/a	n/a
29	ELF1	chr19:55865570-55865912	K562	blood:	n/a	n/a
30	ELF1	chr19:55865653-55866085	GM12878	blood:	n/a	n/a
31	EP300	chr19:55865780-55865821	K562	blood:	n/a	n/a
32	FOS	chr19:55866888-55867263	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr19:55866838-55867396	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr19:55866809-55867232	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr19:55866865-55867120	MCF10A-Er-Src	breast:	n/a	n/a
36	HDAC2	chr19:55865644-55865819	H1-hESC	embryonic stem cell:	n/a	n/a
37	HEY1	chr19:55865672-55865893	K562	blood:	n/a	n/a
38	HEY1	chr19:55865695-55865949	K562	blood:	n/a	n/a
39	HMGN3	chr19:55865133-55866194	K562	blood:	n/a	n/a
40	IRF1	chr19:55864964-55865882	K562	blood:	n/a	chr19:55865359-55865373 chr19:55865426-55865440 chr19:55865380-55865394
41	MAFK	chr19:55864815-55864821	HepG2	liver:	n/a	n/a
42	MAFK	chr19:55865151-55865323	Hela-S3	cervix:	n/a	chr19:55865223-55865232
43	MAX	chr19:55865090-55865494	ECC-1	luminal epithelium:	n/a	chr19:55865340-55865350
44	MAX	chr19:55866064-55866425	K562	blood:	n/a	n/a
45	MAX	chr19:55864965-55865824	A549	lung:	n/a	chr19:55865340-55865350
46	MAX	chr19:55864700-55866015	K562	blood:	n/a	chr19:55865340-55865350
47	MAX	chr19:55865188-55865427	K562	blood:	n/a	chr19:55865340-55865350
48	MAX	chr19:55865216-55865281	Hela-S3	cervix:	n/a	n/a
49	MAX	chr19:55864874-55865949	A549	lung:	n/a	chr19:55865340-55865350
50	MAX	chr19:55865177-55865402	K562	blood:	n/a	chr19:55865340-55865350

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55866677-55866727	RPTEC	kidney:	n/a
2	chr19:55866677-55866727	RPTEC	kidney:	n/a
3	chr19:55865825-55865875	Jurkat	blood:	n/a
4	chr19:55866635-55866685	LNCaP	prostate:	n/a
5	chr19:55866094-55866144	U87	brain:	n/a
6	chr19:55865288-55865338	NT2-D1	testis:	n/a
7	chr19:55866677-55866727	NHDF-neo	bronchial:	n/a
8	chr19:55866412-55866462	LNCaP	prostate:	n/a
9	chr19:55866677-55866727	HNPCEpiC	eye:	n/a
10	chr19:55866094-55866144	AG09319	gingival:	n/a
11	chr19:55866087-55866137	A549	lung:	n/a
12	chr19:55866345-55866395	HRCEpiC	kidney:	n/a
13	chr19:55866087-55866137	BJ	skin:	n/a
14	chr19:55866412-55866462	HAEpiC	amniotic membrane:	n/a
15	chr19:55866315-55866365	SK-N-SH	brain:	n/a
16	chr19:55865288-55865338	T-47D	breast:	n/a
17	chr19:55865076-55865126	BE2_C	brain:	n/a
18	chr19:55866345-55866395	GM06990	blood:	n/a
19	chr19:55866345-55866395	PANC-1	pancreas:	n/a
20	chr19:55865076-55865126	GM12878	blood:	n/a
21	chr19:55866345-55866395	HCM	heart:	n/a
22	chr19:55866329-55866379	AG04449	skin:	fetal
23	chr19:55866635-55866685	HCPEpiC	choroid plexus:	n/a
24	chr19:55865076-55865126	HL-60	blood:	n/a
25	chr19:55866907-55866957	ProgFib	skin:	n/a
26	chr19:55866677-55866727	HEK293	kidney:	embryo
27	chr19:55866345-55866395	AG10803	skin:	n/a
28	chr19:55865288-55865338	HIPEpiC	eye:	n/a
29	chr19:55865356-55865406	HIPEpiC	eye:	n/a
30	chr19:55866345-55866395	AG09319	gingival:	n/a
31	chr19:55866315-55866365	MCF-7	breast:	n/a
32	chr19:55866635-55866685	ovcar-3	ovarian:	n/a
33	chr19:55865356-55865406	HCF	heart:	n/a
34	chr19:55866087-55866137	K562	blood:	n/a
35	chr19:55866677-55866727	HCM	heart:	n/a
36	chr19:55866305-55866355	GM12878	blood:	n/a
37	chr19:55865356-55865406	HCT-116	colon:	n/a
38	chr19:55866412-55866462	HRPEpiC	eye:	n/a
39	chr19:55866329-55866379	AG04450	lung:	fetal
40	chr19:55866315-55866365	HRPEpiC	eye:	n/a
41	chr19:55866635-55866685	HAEpiC	amniotic membrane:	n/a
42	chr19:55866094-55866144	ProgFib	skin:	n/a
43	chr19:55866261-55866311	GM19239	blood:	n/a
44	chr19:55866635-55866685	AG10803	skin:	n/a
45	chr19:55866094-55866144	PFSK-1	brain:	n/a
46	chr19:55865356-55865406	SAEC	small airway:	n/a
47	chr19:55866635-55866685	GM06990	blood:	n/a
48	chr19:55866635-55866685	SK-N-MC	brain:	n/a
49	chr19:55866329-55866379	ovcar-3	ovarian:	n/a
50	chr19:55865825-55865875	ProgFib	skin:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55864065..55867080-chr19:55895058..55897568,4	K562	blood:
2	chr19:55865626..55867203-chr19:55869204..55871320,2	K562	blood:
3	chr19:55866844..55868519-chr19:55877122..55879184,2	K562	blood:
4	chr19:55865421..55867118-chr19:55867127..55868991,3	K562	blood:
5	chr19:55725474..55728358-chr19:55864550..55866958,2	K562	blood:
6	chr19:55768392..55770990-chr19:55864103..55865699,2	MCF-7	breast:
7	chr19:55864929..55868342-chr19:55869494..55871064,3	MCF-7	breast:
8	chr19:55865530..55867437-chr19:55869222..55871050,2	K562	blood:
9	chr19:55865908..55868131-chr19:55880960..55883611,2	MCF-7	breast:
10	chr19:55864307..55867114-chr19:56165229..56167152,3	K562	blood:
11	chr19:55864955..55867658-chr19:55880222..55883231,3	MCF-7	breast:
12	chr19:55863699..55867009-chr19:55895864..55899065,4	MCF-7	breast:
13	chr19:55862642..55868480-chr19:55895176..55899926,10	K562	blood:
14	chr19:55726786..55728358-chr19:55864550..55866363,2	K562	blood:
15	chr19:55865213..55868465-chr19:55868824..55871801,4	MCF-7	breast:
16	chr19:55865425..55868489-chr19:55917598..55920755,3	MCF-7	breast:
17	chr19:55853470..55856275-chr19:55866568..55868839,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71E2-1	chr19:55864975-55865057	NONHSAT068026
2	lnc-FAM71E2-1	chr19:55865476-55865907	NONHSAT068028
3	lnc-FAM71E2-1	chr19:55866018-55866079	NONHSAT068028
4	lnc-FAM71E2-1	chr19:55865508-55866055	NONHSAT068029
5	lnc-FAM71E2-1	chr19:55864352-55864762	NONHSAT068024
6	lnc-FAM71E2-1	chr19:55864680-55864710	NONHSAT068023

No data

Variant related genes	Relation type
COX6B2	TF binding region
COX6B2	CpG island
ENSG00000133247	chromatin interactions
ENSG00000105063	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000267649	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000160471	chromatin interactions
ENSG00000095752	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000267706	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569900682	chr19:55864603-55864604	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs377610287	chr19:55864620-55864621	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs535326286	chr19:55864644-55864645	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs143824581	chr19:55864695-55864696	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs536538320	chr19:55864738-55864739	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs138474755	chr19:55864746-55864747	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs371001206	chr19:55864772-55864773	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs535607306	chr19:55864774-55864775	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs45488296	chr19:55864784-55864785	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572546046	chr19:55864798-55864799	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs578072300	chr19:55864801-55864802	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs537414842	chr19:55864916-55864917	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs546237576	chr19:55864983-55864984	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs557384845	chr19:55865018-55865019	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs573751549	chr19:55865020-55865021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs375973787	chr19:55865049-55865050	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs80221452	chr19:55865057-55865058	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
18	rs144967211	chr19:55865062-55865063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs373469041	chr19:55865074-55865075	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs375106737	chr19:55865126-55865127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs369466477	chr19:55865159-55865160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs542900165	chr19:55865190-55865191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs373724976	chr19:55865202-55865203	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs576407591	chr19:55865252-55865253	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs368349487	chr19:55865255-55865256	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs559887981	chr19:55865266-55865267	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs138900187	chr19:55865279-55865280	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs372455839	chr19:55865287-55865288	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs377408076	chr19:55865288-55865289	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs540732232	chr19:55865304-55865305	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs371151549	chr19:55865319-55865320	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs199757828	chr19:55865329-55865330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs532782350	chr19:55865338-55865339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs368616257	chr19:55865341-55865342	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs375975717	chr19:55865346-55865347	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs12461665	chr19:55865350-55865351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
37	rs376652873	chr19:55865353-55865354	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs369932204	chr19:55865438-55865439	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs542857863	chr19:55865461-55865462	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs534761678	chr19:55865484-55865485	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs551925669	chr19:55865489-55865490	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs142059844	chr19:55865525-55865526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs11084396	chr19:55865527-55865528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs150838083	chr19:55865531-55865532	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs574294051	chr19:55865587-55865588	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs536962259	chr19:55865599-55865600	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs576652293	chr19:55865641-55865642	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs553344492	chr19:55865697-55865698	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs573125366	chr19:55865699-55865700	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs138591719	chr19:55865722-55865723	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55853400-55864800	Weak transcription	Right Atrium	heart
2	chr19:55857800-55864600	Weak transcription	K562	blood
3	chr19:55858800-55864800	Weak transcription	Ovary	ovary
4	chr19:55860000-55864600	Weak transcription	Pancreas	Pancrea
5	chr19:55862400-55864600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:55862600-55864600	Enhancers	Hela-S3	cervix
7	chr19:55862800-55864800	Enhancers	HMEC	breast
8	chr19:55863200-55864600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:55863200-55864800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:55863200-55864800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr19:55863200-55865000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:55863200-55865000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr19:55863200-55865800	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr19:55863400-55864800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
15	chr19:55863400-55864800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
16	chr19:55863600-55864600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
17	chr19:55863600-55864800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
18	chr19:55863600-55865000	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr19:55863600-55865000	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr19:55863800-55864600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:55863800-55864600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
22	chr19:55863800-55865200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr19:55864000-55864800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr19:55864000-55865000	Bivalent Enhancer	Placenta	Placenta
25	chr19:55864000-55865400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:55864200-55864600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr19:55864200-55864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr19:55864200-55864600	Bivalent Enhancer	Right Ventricle	heart
29	chr19:55864200-55864600	Enhancers	Spleen	Spleen
30	chr19:55864200-55864800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr19:55864200-55864800	Bivalent Enhancer	Esophagus	oesophagus
32	chr19:55864200-55864800	Bivalent Enhancer	A549	lung
33	chr19:55864200-55865000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr19:55864400-55864600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr19:55864400-55864600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:55864400-55864600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr19:55864400-55864600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:55864400-55864600	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr19:55864400-55864600	Bivalent Enhancer	Colonic Mucosa	Colon
40	chr19:55864400-55864800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:55864400-55864800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr19:55864400-55864800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr19:55864400-55864800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
44	chr19:55864400-55864800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:55864400-55864800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr19:55864400-55864800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:55864400-55864800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:55864400-55864800	Bivalent Enhancer	Thymus	Thymus
49	chr19:55864400-55864800	Bivalent Enhancer	HepG2	liver
50	chr19:55864400-55865000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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