Variant report

Variant	esv3339628
Chromosome Location	chr5:98107452-98111750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:870)
CpG islands
(count:916)
Chromatin interactive
region (count:7)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:98109946-98110422	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:98107213-98107639	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:98108759-98109553	HepG2	liver:	n/a	n/a
4	ATF1	chr5:98107273-98107572	K562	blood:	n/a	n/a
5	ATF2	chr5:98108646-98109470	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:98107157-98107681	GM12878	blood:	n/a	n/a
7	ATF2	chr5:98109422-98109777	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:98108865-98109348	GM12878	blood:	n/a	n/a
9	ATF2	chr5:98108919-98109277	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr5:98107292-98107527	K562	blood:	n/a	n/a
11	BACH1	chr5:98108552-98108795	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:98107296-98107646	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:98109112-98110115	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCLAF1	chr5:98109883-98110421	GM12878	blood:	n/a	chr5:98110097-98110110 chr5:98110092-98110105 chr5:98110093-98110106
15	BCLAF1	chr5:98107015-98107639	GM12878	blood:	n/a	n/a
16	BCLAF1	chr5:98108843-98109344	GM12878	blood:	n/a	n/a
17	BHLHE40	chr5:98107253-98107669	GM12878	blood:	n/a	n/a
18	BHLHE40	chr5:98109787-98110090	GM12878	blood:	n/a	chr5:98109985-98110001
19	BHLHE40	chr5:98108963-98110192	HepG2	liver:	n/a	chr5:98109564-98109580 chr5:98109569-98109585 chr5:98109590-98109606 chr5:98109572-98109588 chr5:98109985-98110001 chr5:98110094-98110110
20	BHLHE40	chr5:98108701-98109555	GM12878	blood:	n/a	n/a
21	BRCA1	chr5:98106483-98107649	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr5:98108674-98109385	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr5:98109931-98110277	GM12878	blood:	n/a	n/a
24	BRCA1	chr5:98108738-98109192	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr5:98108703-98109362	GM12878	blood:	n/a	n/a
26	CEBPB	chr5:98111713-98112332	IMR90	lung:	n/a	n/a
27	CEBPB	chr5:98109857-98110244	A549	lung:	n/a	n/a
28	CEBPB	chr5:98105860-98107619	Hela-S3	cervix:	n/a	chr5:98106944-98106961
29	CEBPB	chr5:98109842-98110389	HepG2	liver:	n/a	n/a
30	CEBPB	chr5:98110876-98111208	HepG2	liver:	n/a	chr5:98111031-98111042
31	CEBPB	chr5:98108691-98109629	Hela-S3	cervix:	n/a	chr5:98108835-98108843
32	CEBPB	chr5:98106089-98107566	IMR90	lung:	n/a	chr5:98106944-98106961
33	CEBPB	chr5:98110851-98111212	IMR90	lung:	n/a	chr5:98111031-98111042
34	CEBPB	chr5:98110964-98111293	H1-hESC	embryonic stem cell:	n/a	chr5:98111031-98111042
35	CEBPB	chr5:98109860-98110459	Hela-S3	cervix:	n/a	chr5:98110396-98110407 chr5:98110396-98110407
36	CEBPD	chr5:98108955-98109601	HepG2	liver:	n/a	n/a
37	CHD1	chr5:98103004-98112580	IMR90	lung:	n/a	chr5:98110353-98110363 chr5:98104638-98104648
38	CHD1	chr5:98109957-98109975	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr5:98109088-98109168	GM12878	blood:	n/a	n/a
40	CHD1	chr5:98110255-98110830	H1-hESC	embryonic stem cell:	n/a	chr5:98110353-98110363
41	CHD1	chr5:98111004-98111029	GM12878	blood:	n/a	n/a
42	CHD1	chr5:98108525-98109093	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr5:98108616-98109709	GM12878	blood:	n/a	n/a
44	CHD2	chr5:98107083-98107598	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr5:98107151-98107635	GM12878	blood:	n/a	n/a
46	CHD2	chr5:98108562-98110537	Hela-S3	cervix:	n/a	chr5:98110353-98110363
47	CHD2	chr5:98109970-98110142	HepG2	liver:	n/a	n/a
48	CHD2	chr5:98108811-98109404	HepG2	liver:	n/a	n/a
49	CHD2	chr5:98108566-98109668	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr5:98108614-98109781	H1-hESC	embryonic stem cell:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:98111529-98111579	GM06990	blood:	n/a
2	chr5:98111529-98111579	GM06990	blood:	n/a
3	chr5:98110229-98110279	RPTEC	kidney:	n/a
4	chr5:98108543-98108593	PANC-1	pancreas:	n/a
5	chr5:98109981-98110031	HCM	heart:	n/a
6	chr5:98109366-98109416	PFSK-1	brain:	n/a
7	chr5:98110607-98110657	HAEpiC	amniotic membrane:	n/a
8	chr5:98108744-98108794	ECC-1	luminal epithelium:	n/a
9	chr5:98109237-98109287	T-47D	breast:	n/a
10	chr5:98107521-98107571	SKMC	muscle:	n/a
11	chr5:98108865-98108915	LNCaP	prostate:	n/a
12	chr5:98111529-98111579	RPTEC	kidney:	n/a
13	chr5:98109470-98109520	SK-N-SH_RA	brain:	n/a
14	chr5:98110607-98110657	AoSMC	blood vessel:	n/a
15	chr5:98109470-98109520	NHBE	bronchial:	n/a
16	chr5:98109237-98109287	HCM	heart:	n/a
17	chr5:98110229-98110279	AG10803	skin:	n/a
18	chr5:98109470-98109520	HEEpiC	esophagus:	n/a
19	chr5:98108744-98108794	BE2_C	brain:	n/a
20	chr5:98110545-98110595	A549	lung:	n/a
21	chr5:98107521-98107571	HAEpiC	amniotic membrane:	n/a
22	chr5:98107521-98107571	H1-hESC	embryonic stem cell:	embryo
23	chr5:98108751-98108801	NT2-D1	testis:	n/a
24	chr5:98110229-98110279	HCM	heart:	n/a
25	chr5:98109366-98109416	GM06990	blood:	n/a
26	chr5:98108744-98108794	CMK	blood:	n/a
27	chr5:98108751-98108801	HAEpiC	amniotic membrane:	n/a
28	chr5:98108198-98108248	HUVEC	blood vessel:	n/a
29	chr5:98109981-98110031	NHBE	bronchial:	n/a
30	chr5:98108751-98108801	PrEC	prostate:	n/a
31	chr5:98109366-98109416	PrEC	prostate:	n/a
32	chr5:98110607-98110657	CMK	blood:	n/a
33	chr5:98108543-98108593	HRE	kidney:	n/a
34	chr5:98108543-98108593	HCT-116	colon:	n/a
35	chr5:98107521-98107571	SK-N-SH_RA	brain:	n/a
36	chr5:98110229-98110279	PFSK-1	brain:	n/a
37	chr5:98110607-98110657	NT2-D1	testis:	n/a
38	chr5:98108543-98108593	A549	lung:	n/a
39	chr5:98109470-98109520	PFSK-1	brain:	n/a
40	chr5:98109366-98109416	GM12878	blood:	n/a
41	chr5:98108744-98108794	HAEpiC	amniotic membrane:	n/a
42	chr5:98111529-98111579	MCF10A-Er-Src	breast:	n/a
43	chr5:98110545-98110595	LNCaP	prostate:	n/a
44	chr5:98110229-98110279	SKMC	muscle:	n/a
45	chr5:98108198-98108248	HRPEpiC	eye:	n/a
46	chr5:98110545-98110595	HUVEC	blood vessel:	n/a
47	chr5:98108543-98108593	HRCEpiC	kidney:	n/a
48	chr5:98110607-98110657	BE2_C	brain:	n/a
49	chr5:98110229-98110279	SK-N-SH_RA	brain:	n/a
50	chr5:98108744-98108794	HCPEpiC	choroid plexus:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59476329..59477978-chr5:98107765..98110191,2	MCF-7	breast:
2	chr5:98102131..98106489-chr5:98107320..98111501,11	MCF-7	breast:
3	chr5:98102950..98105852-chr5:98106707..98108223,2	K562	blood:
4	chr5:98111277..98112925-chr5:98127736..98129977,2	MCF-7	breast:
5	chr17:79935178..79936013-chr5:98109913..98110484,2	Hela-S3	cervix:
6	chr5:98103871..98107404-chr5:98108128..98112327,8	MCF-7	breast:
7	chr5:96517103..96519459-chr5:98107837..98111064,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1-1	chr5:98108671-98108770	NONHSAT102954
2	lnc-CHD1-1	chr5:98108326-98108482	ENSG00000246763.2
3	lnc-CHD1-1	chr5:98108326-98108502	NONHSAT102950
4	lnc-CHD1-1	chr5:98108326-98108780	NONHSAT102949
5	lnc-CHD1-1	chr5:98108326-98108502	ENSG00000246763.2
6	lnc-CHD1-1	chr5:98108671-98108780	NONHSAT102950
7	lnc-CHD1-1	chr5:98108326-98108792	ENSG00000246763.2
8	lnc-CHD1-1	chr5:98109012-98109173	ENSG00000246763.2
9	lnc-CHD1-1	chr5:98108326-98108788	NR_033932
10	lnc-CHD1-1	chr5:98108671-98108829	ENSG00000246763.2
11	lnc-CHD1-1	chr5:98109012-98109212	NONHSAT102955
12	lnc-CHD1-1	chr5:98108326-98108456	NONHSAT102953
13	lnc-CHD1-1	chr5:98107360-98107470	ENSG00000246763.2
14	lnc-CHD1-1	chr5:98108326-98108419	NONHSAT102954
15	lnc-CHD1-1	chr5:98108671-98108770	NONHSAT102953
16	lnc-CTD-2215E18.1.1-7	chr5:98108646-98108679	NONHSAT102948
17	lnc-CHD1-1	chr5:98108671-98108776	ENSG00000246763.2

No data

Variant related genes	Relation type
RGMB-AS1	TF binding region
RGMB	TF binding region
RGMB-AS1	CpG island
RGMB	CpG island
ENSG00000169696	chromatin interactions
ENSG00000058729	chromatin interactions
ENSG00000251513	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000174136	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145144503	chr5:98107454-98107455	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs540192280	chr5:98107479-98107480	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs188573980	chr5:98107511-98107512	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146854472	chr5:98107513-98107514	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550249915	chr5:98107522-98107523	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114371128	chr5:98107524-98107525	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529593653	chr5:98107530-98107531	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11370451	chr5:98107645-98107646	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397766034	chr5:98107652-98107653	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548186160	chr5:98107659-98107660	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566382434	chr5:98107683-98107684	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556358235	chr5:98107693-98107694	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375961055	chr5:98107731-98107732	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191967740	chr5:98107760-98107761	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577627866	chr5:98107788-98107789	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs184760146	chr5:98107806-98107807	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs571016129	chr5:98107810-98107811	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs538451004	chr5:98107821-98107822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs189164164	chr5:98107854-98107855	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs575007986	chr5:98107861-98107862	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs1508793	chr5:98107876-98107877	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs563106927	chr5:98107877-98107878	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs554119373	chr5:98107888-98107889	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs191286527	chr5:98107933-98107934	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs540516401	chr5:98107966-98107967	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs565071918	chr5:98107975-98107976	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs372074726	chr5:98108044-98108045	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs140653080	chr5:98108086-98108087	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs375982935	chr5:98108112-98108113	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs1818348	chr5:98108135-98108136	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs562052083	chr5:98108259-98108260	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs7724651	chr5:98108263-98108264	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114441820	chr5:98108296-98108297	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs548010737	chr5:98108341-98108342	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs112671457	chr5:98108362-98108363	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs527339529	chr5:98108483-98108484	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
37	rs2271219	chr5:98108649-98108650	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184451822	chr5:98108650-98108651	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
39	rs571165981	chr5:98108683-98108684	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs538414119	chr5:98108742-98108743	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs1828169	chr5:98108758-98108759	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs77084145	chr5:98108864-98108865	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs535931016	chr5:98108892-98108893	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs554019532	chr5:98108898-98108899	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs572394177	chr5:98108912-98108913	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs541576513	chr5:98108916-98108917	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs116103640	chr5:98108922-98108923	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs376978200	chr5:98108925-98108926	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs558767546	chr5:98108996-98108997	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs576745451	chr5:98109088-98109089	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98103400-98107600	Active TSS	Brain Anterior Caudate	brain
2	chr5:98103800-98107600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr5:98103800-98107800	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:98103800-98108000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:98103800-98108000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:98103800-98108200	Active TSS	Fetal Kidney	kidney
7	chr5:98103800-98112600	Active TSS	Rectal Smooth Muscle	rectum
8	chr5:98104000-98107600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr5:98104000-98107600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:98104000-98107600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr5:98104000-98107600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr5:98104000-98107600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr5:98104000-98107800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:98104000-98108200	Active TSS	Fetal Intestine Large	intestine
15	chr5:98104000-98111400	Active TSS	Psoas Muscle	Psoas
16	chr5:98104000-98113400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:98104200-98108000	Active TSS	Brain Hippocampus Middle	brain
18	chr5:98104200-98111600	Active TSS	Right Atrium	heart
19	chr5:98104400-98107600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:98104400-98107800	Active TSS	NHLF	lung
21	chr5:98104400-98108000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:98104400-98108200	Active TSS	Fetal Intestine Small	intestine
23	chr5:98104400-98109800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:98104400-98110800	Active TSS	HSMMtube	muscle
25	chr5:98104600-98107600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:98104600-98107600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:98104600-98107600	Active TSS	NH-A	brain
28	chr5:98104600-98107800	Active TSS	HSMM	muscle
29	chr5:98104600-98107800	Active TSS	NHEK	skin
30	chr5:98104600-98108000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr5:98104600-98108200	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:98104600-98108600	Active TSS	Fetal Stomach	stomach
33	chr5:98104800-98107600	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:98105000-98107600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:98105200-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:98105400-98107600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:98105600-98107600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:98105800-98107600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr5:98105800-98107800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:98105800-98108000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:98106000-98108800	Weak transcription	Spleen	Spleen
42	chr5:98106200-98107600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr5:98106200-98108000	Active TSS	Fetal Muscle Leg	muscle
44	chr5:98106400-98107600	Flanking Active TSS	Fetal Lung	lung
45	chr5:98106400-98107800	Active TSS	Brain Germinal Matrix	brain
46	chr5:98106400-98108600	Active TSS	Fetal Muscle Trunk	muscle
47	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:98106400-98108800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
50	chr5:98106400-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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