Variant report

Variant	esv3345259
Chromosome Location	chr14:55368427-55370975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:832)
CpG islands
(count:611)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:55369457-55370106	HepG2	liver:	n/a	n/a
2	ATF2	chr14:55369631-55370101	GM12878	blood:	n/a	n/a
3	BACH1	chr14:55368473-55368676	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr14:55368760-55369343	GM12878	blood:	n/a	chr14:55368916-55368924 chr14:55368996-55369005 chr14:55368993-55369006
5	BCLAF1	chr14:55368645-55369241	GM12878	blood:	n/a	chr14:55368916-55368924 chr14:55368996-55369005 chr14:55368993-55369006
6	BHLHE40	chr14:55368574-55369625	K562	blood:	n/a	chr14:55368993-55369009
7	BHLHE40	chr14:55368944-55370096	HepG2	liver:	n/a	chr14:55368993-55369009
8	BHLHE40	chr14:55369915-55370002	K562	blood:	n/a	n/a
9	BHLHE40	chr14:55368855-55369669	GM12878	blood:	n/a	chr14:55368993-55369009
10	BRCA1	chr14:55368666-55368974	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr14:55369363-55369546	HepG2	liver:	n/a	n/a
12	BRCA1	chr14:55369321-55369517	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr14:55368738-55369879	K562	blood:	n/a	n/a
14	CEBPB	chr14:55368754-55369926	HepG2	liver:	n/a	n/a
15	CEBPB	chr14:55368764-55369136	HepG2	liver:	n/a	n/a
16	CEBPB	chr14:55368723-55369120	A549	lung:	n/a	n/a
17	CEBPB	chr14:55370348-55370548	K562	blood:	n/a	chr14:55370428-55370439 chr14:55370427-55370440 chr14:55370427-55370438
18	CEBPB	chr14:55368768-55369135	A549	lung:	n/a	n/a
19	CEBPB	chr14:55368837-55369023	K562	blood:	n/a	n/a
20	CEBPB	chr14:55368493-55369496	MCF-7	breast:	n/a	n/a
21	CEBPB	chr14:55368753-55369050	K562	blood:	n/a	n/a
22	CEBPB	chr14:55368762-55369135	K562	blood:	n/a	n/a
23	CEBPB	chr14:55368753-55369100	HepG2	liver:	n/a	n/a
24	CEBPB	chr14:55368623-55369295	A549	lung:	n/a	n/a
25	CEBPB	chr14:55368747-55369205	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr14:55368619-55369233	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr14:55368846-55369035	HepG2	liver:	n/a	n/a
28	CEBPB	chr14:55370378-55370480	HepG2	liver:	n/a	chr14:55370428-55370439 chr14:55370427-55370440 chr14:55370427-55370438
29	CEBPB	chr14:55368578-55369119	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr14:55369658-55369798	K562	blood:	n/a	n/a
31	CEBPB	chr14:55368785-55369124	IMR90	lung:	n/a	n/a
32	CEBPB	chr14:55369741-55369908	HepG2	liver:	n/a	n/a
33	CEBPD	chr14:55368838-55369127	HepG2	liver:	n/a	n/a
34	CEBPD	chr14:55369268-55369858	HepG2	liver:	n/a	n/a
35	CHD1	chr14:55369788-55369799	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr14:55368806-55368873	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr14:55369093-55369240	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr14:55368909-55369513	GM12878	blood:	n/a	n/a
39	CHD2	chr14:55368669-55369730	GM12878	blood:	n/a	n/a
40	CHD2	chr14:55369424-55369667	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr14:55369325-55369827	K562	blood:	n/a	n/a
42	CHD2	chr14:55368572-55368837	HepG2	liver:	n/a	n/a
43	CHD2	chr14:55368199-55370068	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr14:55369356-55369961	HepG2	liver:	n/a	n/a
45	CHD2	chr14:55368535-55368969	K562	blood:	n/a	n/a
46	CHD2	chr14:55368542-55368830	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr14:55368807-55369183	A549	lung:	n/a	n/a
48	CREB1	chr14:55369284-55370176	HepG2	liver:	n/a	n/a
49	CREB1	chr14:55369388-55370072	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr14:55369478-55369773	A549	lung:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55369861-55369911	H1-hESC	embryonic stem cell:	embryo
2	chr14:55369861-55369911	H1-hESC	embryonic stem cell:	embryo
3	chr14:55369861-55369911	ECC-1	luminal epithelium:	n/a
4	chr14:55368924-55368974	RPTEC	kidney:	n/a
5	chr14:55369959-55370009	PrEC	prostate:	n/a
6	chr14:55368706-55368756	AG04449	skin:	fetal
7	chr14:55368442-55368492	AG09319	gingival:	n/a
8	chr14:55369959-55370009	HepG2	liver:	n/a
9	chr14:55369861-55369911	HRCEpiC	kidney:	n/a
10	chr14:55369460-55369510	PrEC	prostate:	n/a
11	chr14:55369460-55369510	GM12891	blood:	n/a
12	chr14:55368706-55368756	CMK	blood:	n/a
13	chr14:55369460-55369510	SAEC	small airway:	n/a
14	chr14:55369088-55369138	Jurkat	blood:	n/a
15	chr14:55369861-55369911	PFSK-1	brain:	n/a
16	chr14:55369861-55369911	RPTEC	kidney:	n/a
17	chr14:55369088-55369138	HUVEC	blood vessel:	n/a
18	chr14:55369959-55370009	HRPEpiC	eye:	n/a
19	chr14:55369212-55369262	HRE	kidney:	n/a
20	chr14:55368442-55368492	BE2_C	brain:	n/a
21	chr14:55369212-55369262	Caco-2	colon:	n/a
22	chr14:55369088-55369138	A549	lung:	n/a
23	chr14:55369212-55369262	BE2_C	brain:	n/a
24	chr14:55369212-55369262	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:55369460-55369510	ovcar-3	ovarian:	n/a
26	chr14:55369030-55369080	LNCaP	prostate:	n/a
27	chr14:55369460-55369510	CMK	blood:	n/a
28	chr14:55369460-55369510	AG04450	lung:	fetal
29	chr14:55369959-55370009	SK-N-SH	brain:	n/a
30	chr14:55369212-55369262	HCM	heart:	n/a
31	chr14:55368706-55368756	HRE	kidney:	n/a
32	chr14:55369088-55369138	PrEC	prostate:	n/a
33	chr14:55369460-55369510	MCF10A-Er-Src	breast:	n/a
34	chr14:55369861-55369911	GM12892	blood:	n/a
35	chr14:55368924-55368974	SK-N-SH	brain:	n/a
36	chr14:55369861-55369911	HepG2	liver:	n/a
37	chr14:55369460-55369510	GM06990	blood:	n/a
38	chr14:55369088-55369138	Hepatocyte	liver:	n/a
39	chr14:55369460-55369510	Jurkat	blood:	n/a
40	chr14:55369959-55370009	SK-N-MC	brain:	n/a
41	chr14:55369030-55369080	SK-N-SH	brain:	n/a
42	chr14:55368442-55368492	PrEC	prostate:	n/a
43	chr14:55369460-55369510	RPTEC	kidney:	n/a
44	chr14:55368442-55368492	ECC-1	luminal epithelium:	n/a
45	chr14:55368442-55368492	Caco-2	colon:	n/a
46	chr14:55368442-55368492	IMR90	lung:	fetal
47	chr14:55368706-55368756	HNPCEpiC	eye:	n/a
48	chr14:55368924-55368974	HEK293	kidney:	embryo
49	chr14:55369460-55369510	SKMC	muscle:	n/a
50	chr14:55368442-55368492	SK-N-SH	brain:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55030801..55036234-chr14:55366700..55372024,9	MCF-7	breast:
2	chr14:55369487..55370112-chrX:70585640..70586564,2	Hela-S3	cervix:
3	chr14:55369172..55369944-chr19:35264069..35264965,2	HCT-116	colon:
4	chr14:55032369..55034172-chr14:55367637..55369968,2	K562	blood:
5	chr14:55247890..55252413-chr14:55368163..55370491,5	MCF-7	breast:
6	chr14:55289701..55291395-chr14:55367160..55368912,2	MCF-7	breast:
7	chr14:54954247..54955899-chr14:55367178..55369078,2	MCF-7	breast:
8	chr14:55368751..55370631-chr14:55518308..55520538,2	K562	blood:
9	chr14:55351951..55354870-chr14:55368126..55370512,5	MCF-7	breast:
10	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:
11	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
12	chr14:55368105..55371463-chr14:55516987..55520396,7	MCF-7	breast:
13	chr14:55368974..55369574-chr6:27100348..27100871,2	Hela-S3	cervix:
14	chr14:55368060..55369582-chr14:55493883..55496744,2	MCF-7	breast:
15	chr14:55343213..55346860-chr14:55368496..55370471,3	MCF-7	breast:
16	chr14:55365292..55366794-chr14:55367173..55368937,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAMD4A-3	chr14:55369024-55370518	NONHSAT036977

No data

Variant related genes	Relation type
GCH1	TF binding region
GCH1	CpG island
ENSG00000131981	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000265432	chromatin interactions
ENSG00000020577	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000153896	chromatin interactions
ENSG00000147133	chromatin interactions
ENSG00000180008	chromatin interactions
ENSG00000197045	chromatin interactions
ENSG00000258872	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187043836	chr14:55368473-55368474	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs550554791	chr14:55368508-55368509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs190260173	chr14:55368534-55368535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs182516336	chr14:55368547-55368548	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs149923861	chr14:55368549-55368550	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs557966276	chr14:55368591-55368592	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs111444831	chr14:55368600-55368601	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs534374592	chr14:55368614-55368615	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs2149482	chr14:55368627-55368628	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574433870	chr14:55368634-55368635	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs186750161	chr14:55368650-55368651	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs563268452	chr14:55368682-55368683	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs75097692	chr14:55368715-55368716	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs373428377	chr14:55368736-55368737	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs546102949	chr14:55368753-55368754	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs376427058	chr14:55368756-55368757	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs528279134	chr14:55368768-55368769	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs546734910	chr14:55368810-55368811	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs562085451	chr14:55368856-55368857	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs554284182	chr14:55368871-55368872	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs34499089	chr14:55368875-55368876	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs28413055	chr14:55368895-55368896	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550589835	chr14:55368902-55368903	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs566894384	chr14:55368903-55368904	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs533123558	chr14:55368909-55368910	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs551807951	chr14:55368913-55368914	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs113333504	chr14:55368922-55368923	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs534139027	chr14:55368963-55368964	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs2183080	chr14:55368986-55368987	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs372902364	chr14:55368994-55368995	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs375868601	chr14:55369011-55369012	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs370233441	chr14:55369031-55369032	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs535517364	chr14:55369045-55369046	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs199990434	chr14:55369048-55369049	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs104894435	chr14:55369059-55369060	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs527416949	chr14:55369083-55369084	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
37	rs104894433	chr14:55369120-55369121	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
38	rs557028351	chr14:55369139-55369140	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
39	rs61762303	chr14:55369149-55369150	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs138659971	chr14:55369166-55369167	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs141883031	chr14:55369171-55369172	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs56127440	chr14:55369176-55369177	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
43	rs557778839	chr14:55369178-55369179	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
44	rs139350456	chr14:55369187-55369188	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
45	rs142852146	chr14:55369202-55369203	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
46	rs375788167	chr14:55369228-55369229	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
47	rs377631489	chr14:55369235-55369236	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
48	rs573085618	chr14:55369237-55369238	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
49	rs104894444	chr14:55369240-55369241	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs41298432	chr14:55369314-55369315	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55367000-55370200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:55367200-55369000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:55367200-55369800	Active TSS	Liver	Liver
4	chr14:55367400-55368600	Flanking Active TSS	Thymus	Thymus
5	chr14:55367400-55368600	Flanking Active TSS	Dnd41	blood
6	chr14:55367400-55368800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr14:55367400-55369800	Active TSS	GM12878-XiMat	blood
8	chr14:55367600-55368600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:55367600-55368600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:55367600-55369000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:55367600-55369400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr14:55367600-55369400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:55367600-55369400	Flanking Active TSS	Osteobl	bone
14	chr14:55367600-55369600	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr14:55367600-55370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr14:55367600-55370200	Active TSS	Primary T cells from cord blood	blood
17	chr14:55367600-55370200	Active TSS	Right Atrium	heart
18	chr14:55367800-55368600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:55367800-55368600	Flanking Active TSS	Fetal Thymus	thymus
20	chr14:55367800-55368800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:55367800-55368800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr14:55367800-55368800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:55367800-55368800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr14:55367800-55368800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr14:55367800-55368800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr14:55367800-55368800	Flanking Active TSS	HUVEC	blood vessel
27	chr14:55367800-55369000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr14:55367800-55369200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr14:55367800-55370000	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr14:55367800-55370000	Active TSS	Fetal Kidney	kidney
31	chr14:55367800-55370200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr14:55367800-55370200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr14:55367800-55370200	Active TSS	Colonic Mucosa	Colon
34	chr14:55367800-55370200	Active TSS	Psoas Muscle	Psoas
35	chr14:55367800-55370200	Active TSS	Rectal Smooth Muscle	rectum
36	chr14:55367800-55370200	Active TSS	Right Ventricle	heart
37	chr14:55368000-55368600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr14:55368000-55368600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:55368000-55368800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:55368000-55368800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr14:55368000-55368800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:55368000-55368800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr14:55368000-55368800	Flanking Active TSS	Placenta	Placenta
44	chr14:55368000-55369000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr14:55368000-55369000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr14:55368000-55369200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr14:55368000-55369200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:55368000-55369400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:55368000-55369800	Active TSS	Spleen	Spleen
50	chr14:55368000-55370000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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