Variant report

Variant	esv3405241
Chromosome Location	chr19:55865165-55868013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:915)
Chromatin interactive
region (count:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:55865703-55866205	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:55865175-55865377	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr19:55865173-55865372	K562	blood:	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	chr19:55865076-55865472	K562	blood:	n/a	n/a
7	CBX3	chr19:55865670-55865987	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	chr19:55865800-55865950	AG04449	skin:	n/a	n/a
11	CTCF	chr19:55865895-55865927	GM12891	blood:	n/a	n/a
12	CTCF	chr19:55865887-55865987	NHEK	skin:	n/a	n/a
13	CTCF	chr19:55866060-55866210	K562	blood:	n/a	n/a
14	CTCF	chr19:55865100-55865250	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr19:55865220-55865370	AG04449	skin:	n/a	n/a
16	E2F6	chr19:55865597-55866022	K562	blood:	n/a	chr19:55865945-55865959
17	E2F6	chr19:55864933-55865933	A549	lung:	n/a	chr19:55865340-55865349
18	E2F6	chr19:55866093-55866381	K562	blood:	n/a	n/a
19	E2F6	chr19:55865056-55865494	K562	blood:	n/a	chr19:55865340-55865349
20	E2F6	chr19:55865108-55865535	K562	blood:	n/a	chr19:55865340-55865349
21	EGR1	chr19:55866564-55866810	K562	blood:	n/a	n/a
22	EGR1	chr19:55866170-55866492	K562	blood:	n/a	chr19:55866195-55866208
23	EGR1	chr19:55866129-55866406	K562	blood:	n/a	chr19:55866195-55866208
24	EGR1	chr19:55866528-55866753	K562	blood:	n/a	n/a
25	ELF1	chr19:55865570-55865912	K562	blood:	n/a	n/a
26	ELF1	chr19:55865062-55865411	K562	blood:	n/a	n/a
27	ELF1	chr19:55865640-55866039	K562	blood:	n/a	n/a
28	ELF1	chr19:55865653-55866085	GM12878	blood:	n/a	n/a
29	ELF1	chr19:55865100-55865417	K562	blood:	n/a	n/a
30	EP300	chr19:55865780-55865821	K562	blood:	n/a	n/a
31	FOS	chr19:55866865-55867120	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr19:55866838-55867396	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr19:55866888-55867263	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr19:55866809-55867232	MCF10A-Er-Src	breast:	n/a	n/a
35	HDAC2	chr19:55865644-55865819	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr19:55865672-55865893	K562	blood:	n/a	n/a
37	HEY1	chr19:55865695-55865949	K562	blood:	n/a	n/a
38	HMGN3	chr19:55865133-55866194	K562	blood:	n/a	n/a
39	IRF1	chr19:55864964-55865882	K562	blood:	n/a	chr19:55865359-55865373 chr19:55865426-55865440 chr19:55865380-55865394
40	MAFK	chr19:55865151-55865323	Hela-S3	cervix:	n/a	chr19:55865223-55865232
41	MAX	chr19:55866064-55866425	K562	blood:	n/a	n/a
42	MAX	chr19:55865216-55865281	Hela-S3	cervix:	n/a	n/a
43	MAX	chr19:55864965-55865824	A549	lung:	n/a	chr19:55865340-55865350
44	MAX	chr19:55865188-55865427	K562	blood:	n/a	chr19:55865340-55865350
45	MAX	chr19:55864874-55865949	A549	lung:	n/a	chr19:55865340-55865350
46	MAX	chr19:55865177-55865402	K562	blood:	n/a	chr19:55865340-55865350
47	MAX	chr19:55865090-55865494	ECC-1	luminal epithelium:	n/a	chr19:55865340-55865350
48	MAX	chr19:55864700-55866015	K562	blood:	n/a	chr19:55865340-55865350
49	MAZ	chr19:55865196-55866025	K562	blood:	n/a	chr19:55865340-55865350
50	MAZ	chr19:55865218-55865651	Hela-S3	cervix:	n/a	chr19:55865340-55865350

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55865825-55865875	PFSK-1	brain:	n/a
2	chr19:55866087-55866137	ProgFib	skin:	n/a
3	chr19:55866246-55866296	AG04449	skin:	fetal
4	chr19:55866329-55866379	HNPCEpiC	eye:	n/a
5	chr19:55866345-55866395	HMEC	breast:	n/a
6	chr19:55865356-55865406	HIPEpiC	eye:	n/a
7	chr19:55866329-55866379	SKMC	muscle:	n/a
8	chr19:55866315-55866365	GM12892	blood:	n/a
9	chr19:55866345-55866395	HL-60	blood:	n/a
10	chr19:55866345-55866395	GM12892	blood:	n/a
11	chr19:55866305-55866355	HCT-116	colon:	n/a
12	chr19:55866329-55866379	HCT-116	colon:	n/a
13	chr19:55866635-55866685	GM19239	blood:	n/a
14	chr19:55866087-55866137	Hela-S3	cervix:	n/a
15	chr19:55866246-55866296	HRCEpiC	kidney:	n/a
16	chr19:55866907-55866957	HRCEpiC	kidney:	n/a
17	chr19:55865825-55865875	GM12891	blood:	n/a
18	chr19:55866677-55866727	NH-A	brain:	n/a
19	chr19:55866261-55866311	AG04450	lung:	fetal
20	chr19:55866329-55866379	AG10803	skin:	n/a
21	chr19:55866635-55866685	AG09319	gingival:	n/a
22	chr19:55865288-55865338	NT2-D1	testis:	n/a
23	chr19:55866305-55866355	HNPCEpiC	eye:	n/a
24	chr19:55866635-55866685	AG09309	skin:	n/a
25	chr19:55866345-55866395	NHDF-neo	bronchial:	n/a
26	chr19:55866094-55866144	GM12891	blood:	n/a
27	chr19:55866087-55866137	AG10803	skin:	n/a
28	chr19:55865356-55865406	AG04450	lung:	fetal
29	chr19:55866635-55866685	RPTEC	kidney:	n/a
30	chr19:55866907-55866957	AG10803	skin:	n/a
31	chr19:55866261-55866311	ovcar-3	ovarian:	n/a
32	chr19:55866635-55866685	SAEC	small airway:	n/a
33	chr19:55866246-55866296	SK-N-MC	brain:	n/a
34	chr19:55866635-55866685	HEK293	kidney:	embryo
35	chr19:55866261-55866311	HCM	heart:	n/a
36	chr19:55866261-55866311	HRCEpiC	kidney:	n/a
37	chr19:55866329-55866379	Caco-2	colon:	n/a
38	chr19:55865356-55865406	PFSK-1	brain:	n/a
39	chr19:55866087-55866137	BE2_C	brain:	n/a
40	chr19:55865825-55865875	HEK293	kidney:	embryo
41	chr19:55866094-55866144	SK-N-MC	brain:	n/a
42	chr19:55866246-55866296	LNCaP	prostate:	n/a
43	chr19:55866412-55866462	RPTEC	kidney:	n/a
44	chr19:55866345-55866395	ECC-1	luminal epithelium:	n/a
45	chr19:55865288-55865338	AG09309	skin:	n/a
46	chr19:55866677-55866727	GM19239	blood:	n/a
47	chr19:55866329-55866379	BE2_C	brain:	n/a
48	chr19:55866345-55866395	BJ	skin:	n/a
49	chr19:55866677-55866727	IMR90	lung:	fetal
50	chr19:55866907-55866957	Caco-2	colon:	n/a

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71E2-1	chr19:55865476-55865907	NONHSAT068028
2	lnc-FAM71E2-1	chr19:55865508-55866055	NONHSAT068029
3	lnc-FAM71E2-1	chr19:55866018-55866079	NONHSAT068028

No data

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

Extended variants
information (count: 111 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	rs200588806	chr19:55865728-55865729	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
31	rs376805143	chr19:55865764-55865765	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
32	rs201970981	chr19:55865767-55865768	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
33	rs149294692	chr19:55865795-55865796	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
34	rs144019446	chr19:55865801-55865802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
35	rs372120425	chr19:55865827-55865828	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
36	rs374797839	chr19:55865829-55865830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
37	rs199827691	chr19:55865839-55865840	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
38	rs371406810	chr19:55865842-55865843	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
39	rs375376285	chr19:55865861-55865862	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs528839611	chr19:55865866-55865867	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs369960718	chr19:55865890-55865891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
42	rs200982714	chr19:55865891-55865892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs199913551	chr19:55865897-55865898	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs373131072	chr19:55865905-55865906	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs545714425	chr19:55865913-55865914	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs376486513	chr19:55865917-55865918	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs528311028	chr19:55865919-55865920	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs369158105	chr19:55865923-55865924	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs201511375	chr19:55865924-55865925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
50	rs368951071	chr19:55866012-55866013	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	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:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55863200-55865800	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr19:55863800-55865200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr19:55864000-55865400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:55864400-55865200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr19:55864400-55865200	Enhancers	Gastric	stomach
6	chr19:55864400-55866000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:55864400-55866000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:55864400-55866200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:55864600-55865200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr19:55864600-55865200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr19:55864600-55865200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr19:55864600-55865200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr19:55864600-55865200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
14	chr19:55864600-55865200	Bivalent Enhancer	Fetal Thymus	thymus
15	chr19:55864600-55865200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
16	chr19:55864600-55865200	Bivalent Enhancer	Spleen	Spleen
17	chr19:55864600-55865400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr19:55864600-55865400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
19	chr19:55864600-55865600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr19:55864600-55866000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:55864600-55866200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr19:55864600-55866200	Enhancers	Lung	lung
23	chr19:55864600-55866400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:55864800-55865200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:55864800-55865200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
26	chr19:55864800-55865200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:55864800-55865200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:55864800-55865200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr19:55864800-55865200	Bivalent Enhancer	Fetal Heart	heart
30	chr19:55864800-55865200	Bivalent Enhancer	Fetal Lung	lung
31	chr19:55864800-55865200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr19:55864800-55865200	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
33	chr19:55864800-55865200	Flanking Bivalent TSS/Enh	A549	lung
34	chr19:55864800-55865200	Flanking Active TSS	K562	blood
35	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
40	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
41	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
43	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
44	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
45	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr19:55864800-55865600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr19:55864800-55865600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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