Variant report

Variant	esv3409585
Chromosome Location	chr7:27152452-27155000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:266)
CpG islands
(count:1283)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr7:27154672-27155277	A549	lung:	n/a	n/a
2	BCL3	chr7:27154747-27155495	A549	lung:	n/a	n/a
3	BCL3	chr7:27154570-27155299	A549	lung:	n/a	n/a
4	BCL3	chr7:27152827-27153458	A549	lung:	n/a	n/a
5	BRCA1	chr7:27153143-27153334	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr7:27154607-27155455	HCT-116	colon:	n/a	n/a
7	CCNT2	chr7:27153097-27153364	K562	blood:	n/a	n/a
8	CEBPB	chr7:27154487-27155455	HCT-116	colon:	n/a	chr7:27154661-27154672
9	CEBPB	chr7:27153131-27153227	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr7:27154523-27155430	HCT-116	colon:	n/a	chr7:27154661-27154672
11	CEBPB	chr7:27154638-27155174	Hela-S3	cervix:	n/a	chr7:27154661-27154672
12	CEBPB	chr7:27154585-27155161	IMR90	lung:	n/a	chr7:27154661-27154672
13	CEBPB	chr7:27154632-27155249	A549	lung:	n/a	chr7:27154661-27154672
14	CHD1	chr7:27152421-27165798	IMR90	lung:	n/a	n/a
15	CHD2	chr7:27152930-27153308	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr7:27154725-27155239	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr7:27153634-27153834	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr7:27153716-27153907	A549	lung:	n/a	n/a
19	CTBP2	chr7:27154912-27155573	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTBP2	chr7:27152651-27153412	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:27153180-27153330	HUVEC	blood vessel:	n/a	n/a
22	E2F4	chr7:27153089-27153240	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr7:27153670-27153969	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr7:27154928-27155196	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr7:27152723-27152796	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr7:27154244-27154360	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr7:27152918-27153123	K562	blood:	n/a	chr7:27153061-27153074 chr7:27153064-27153074
28	EGR1	chr7:27152734-27153454	H1-hESC	embryonic stem cell:	n/a	chr7:27153061-27153074 chr7:27153064-27153074
29	EGR1	chr7:27154486-27155474	HCT-116	colon:	n/a	n/a
30	EGR1	chr7:27154497-27155393	HCT-116	colon:	n/a	n/a
31	ELK1	chr7:27153921-27153954	Hela-S3	cervix:	n/a	n/a
32	ELK1	chr7:27153107-27153305	Hela-S3	cervix:	n/a	n/a
33	ELK4	chr7:27154744-27155010	Hela-S3	cervix:	n/a	n/a
34	EP300	chr7:27154489-27155374	A549	lung:	n/a	n/a
35	EP300	chr7:27152730-27153454	A549	lung:	n/a	n/a
36	EP300	chr7:27154555-27155568	A549	lung:	n/a	n/a
37	EP300	chr7:27152773-27153436	A549	lung:	n/a	n/a
38	EP300	chr7:27152977-27153309	K562	blood:	n/a	n/a
39	ETS1	chr7:27154777-27155452	A549	lung:	n/a	n/a
40	FOS	chr7:27153041-27153186	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr7:27154596-27155064	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr7:27154615-27155087	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr7:27154751-27155009	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr7:27152953-27153300	HUVEC	blood vessel:	n/a	n/a
45	FOS	chr7:27154720-27155037	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr7:27152980-27153245	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr7:27151933-27152463	MCF10A-Er-Src	breast:	n/a	n/a
48	FOSL1	chr7:27154493-27155535	HCT-116	colon:	n/a	n/a
49	FOSL2	chr7:27154559-27155178	A549	lung:	n/a	n/a
50	FOSL2	chr7:27154728-27155013	A549	lung:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27154537-27154587	Hepatocyte	liver:	n/a
2	chr7:27154660-27154710	ovcar-3	ovarian:	n/a
3	chr7:27154537-27154587	Hepatocyte	liver:	n/a
4	chr7:27154660-27154710	ovcar-3	ovarian:	n/a
5	chr7:27154387-27154437	HEK293	kidney:	embryo
6	chr7:27152899-27152949	LNCaP	prostate:	n/a
7	chr7:27153580-27153630	U87	brain:	n/a
8	chr7:27154305-27154355	HUVEC	blood vessel:	n/a
9	chr7:27152583-27152633	HCM	heart:	n/a
10	chr7:27154537-27154587	RPTEC	kidney:	n/a
11	chr7:27154660-27154710	HMEC	breast:	n/a
12	chr7:27153580-27153630	AG04449	skin:	fetal
13	chr7:27154262-27154312	HepG2	liver:	n/a
14	chr7:27154264-27154314	HRCEpiC	kidney:	n/a
15	chr7:27153663-27153713	GM12892	blood:	n/a
16	chr7:27154914-27154964	IMR90	lung:	fetal
17	chr7:27154911-27154961	HL-60	blood:	n/a
18	chr7:27153663-27153713	MCF-7	breast:	n/a
19	chr7:27154262-27154312	HEEpiC	esophagus:	n/a
20	chr7:27154537-27154587	HEEpiC	esophagus:	n/a
21	chr7:27154387-27154437	HAEpiC	amniotic membrane:	n/a
22	chr7:27154262-27154312	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:27152899-27152949	SK-N-SH	brain:	n/a
24	chr7:27154914-27154964	HCF	heart:	n/a
25	chr7:27154305-27154355	SK-N-SH_RA	brain:	n/a
26	chr7:27154537-27154587	HRCEpiC	kidney:	n/a
27	chr7:27153655-27153705	HL-60	blood:	n/a
28	chr7:27154537-27154587	Caco-2	colon:	n/a
29	chr7:27153655-27153705	GM12892	blood:	n/a
30	chr7:27154262-27154312	MCF-7	breast:	n/a
31	chr7:27154660-27154710	HCM	heart:	n/a
32	chr7:27152583-27152633	NB4	blood:	n/a
33	chr7:27153944-27153994	SK-N-SH	brain:	n/a
34	chr7:27154911-27154961	AoSMC	blood vessel:	n/a
35	chr7:27153212-27153262	GM12878	blood:	n/a
36	chr7:27154660-27154710	CMK	blood:	n/a
37	chr7:27154911-27154961	HCM	heart:	n/a
38	chr7:27153944-27153994	AG04450	lung:	fetal
39	chr7:27153580-27153630	HAEpiC	amniotic membrane:	n/a
40	chr7:27154305-27154355	HCF	heart:	n/a
41	chr7:27152899-27152949	K562	blood:	n/a
42	chr7:27154911-27154961	U87	brain:	n/a
43	chr7:27153212-27153262	HRPEpiC	eye:	n/a
44	chr7:27153944-27153994	HRE	kidney:	n/a
45	chr7:27154537-27154587	PANC-1	pancreas:	n/a
46	chr7:27153605-27153655	GM12891	blood:	n/a
47	chr7:27153636-27153686	HRPEpiC	eye:	n/a
48	chr7:27153212-27153262	AG04450	lung:	fetal
49	chr7:27152899-27152949	A549	lung:	n/a
50	chr7:27152583-27152633	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:22351593..22352551-chr7:27153377..27154126,2	Hela-S3	cervix:
2	chr7:27153704..27155716-chr7:27164230..27167167,2	MCF-7	breast:
3	chr7:27147212..27149941-chr7:27151391..27153594,2	K562	blood:
4	chr7:27150209..27152562-chr7:27153238..27155636,2	K562	blood:
5	chr7:27154191..27156761-chr7:27169805..27172339,2	MCF-7	breast:
6	7:27143270-27156413..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
7	chr7:27154930..27155509-chr7:27182224..27183181,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-10	chr7:27153555-27153612	ENSG00000253552
2	lnc-EVX1-10	chr7:27154967-27155962	ENSG00000253552

No data

Variant related genes	Relation type
HOXA-AS2	TF binding region
HOXA3	TF binding region
HOXA-AS2	CpG island
HOXA3	CpG island
ENSG00000105997	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000197576	chromatin interactions
ENSG00000218510	chromatin interactions
TGFBI	miRNA target sites

Extended variants
information (count: 71 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542802570	chr7:27152494-27152495	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs562612106	chr7:27152549-27152550	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374805586	chr7:27152557-27152558	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367546794	chr7:27152590-27152591	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545802303	chr7:27152619-27152620	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186785220	chr7:27152735-27152736	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544707277	chr7:27152775-27152776	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564882838	chr7:27152824-27152825	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139163069	chr7:27152841-27152842	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371457149	chr7:27152846-27152847	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547296471	chr7:27152992-27152993	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560579392	chr7:27153062-27153063	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191631718	chr7:27153098-27153099	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549158729	chr7:27153133-27153134	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569035496	chr7:27153139-27153140	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540219270	chr7:27153177-27153178	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs80287504	chr7:27153207-27153208	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571634193	chr7:27153220-27153221	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35947868	chr7:27153276-27153277	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7798733	chr7:27153281-27153282	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573973005	chr7:27153284-27153285	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536496775	chr7:27153323-27153324	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs182196228	chr7:27153407-27153408	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs374924188	chr7:27153421-27153422	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs576239526	chr7:27153457-27153458	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs545104987	chr7:27153513-27153514	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs564801035	chr7:27153608-27153609	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs186111687	chr7:27153849-27153850	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs149898220	chr7:27153916-27153917	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs189834131	chr7:27153978-27153979	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs114678315	chr7:27153999-27154000	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs59240463	chr7:27154026-27154027	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371928285	chr7:27154039-27154040	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs562756127	chr7:27154044-27154045	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs115864212	chr7:27154050-27154051	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs117435603	chr7:27154068-27154069	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs571609300	chr7:27154099-27154100	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs527724998	chr7:27154240-27154241	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs11978817	chr7:27154277-27154278	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs575871120	chr7:27154309-27154310	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs146995564	chr7:27154363-27154364	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs70994629	chr7:27154387-27154388	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs377265163	chr7:27154388-27154389	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs547470262	chr7:27154396-27154397	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs565689920	chr7:27154437-27154438	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs11762095	chr7:27154447-27154448	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs113877077	chr7:27154452-27154453	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs371004364	chr7:27154455-27154456	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs113900708	chr7:27154464-27154465	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs567593488	chr7:27154465-27154466	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27145800-27162800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:27146400-27169600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:27146800-27159000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:27148000-27152600	Weak transcription	Small Intestine	intestine
5	chr7:27149000-27153200	Enhancers	NHDF-Ad	bronchial
6	chr7:27149800-27153000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:27150000-27153000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:27150000-27153000	Flanking Active TSS	NHEK	skin
9	chr7:27150000-27153400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:27150000-27158400	Active TSS	Aorta	Aorta
11	chr7:27150400-27152600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:27150400-27152600	Enhancers	Colonic Mucosa	Colon
13	chr7:27150400-27152600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:27150400-27152600	Enhancers	Hela-S3	cervix
15	chr7:27150400-27152800	Weak transcription	Pancreas	Pancrea
16	chr7:27150400-27153000	Flanking Active TSS	HUVEC	blood vessel
17	chr7:27150400-27154600	Bivalent/Poised TSS	NH-A	brain
18	chr7:27150800-27152600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:27151000-27152600	Weak transcription	Esophagus	oesophagus
20	chr7:27151000-27152800	Weak transcription	Lung	lung
21	chr7:27151000-27152800	Weak transcription	HSMMtube	muscle
22	chr7:27151000-27158200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:27151200-27152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:27151200-27152600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:27151200-27152600	Weak transcription	HSMM	muscle
26	chr7:27151200-27152800	Active TSS	Fetal Intestine Large	intestine
27	chr7:27151200-27152800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr7:27151200-27153000	Bivalent/Poised TSS	Fetal Brain Male	brain
29	chr7:27151200-27153000	Weak transcription	Spleen	Spleen
30	chr7:27151400-27152600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:27151400-27154000	Active TSS	Fetal Stomach	stomach
32	chr7:27151400-27155000	Weak transcription	HepG2	liver
33	chr7:27151600-27152600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:27151600-27152600	Weak transcription	Psoas Muscle	Psoas
35	chr7:27151600-27152800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:27151600-27154000	Active TSS	NHLF	lung
37	chr7:27151600-27156000	Active TSS	Fetal Kidney	kidney
38	chr7:27151600-27156800	Bivalent/Poised TSS	Fetal Lung	lung
39	chr7:27151600-27159200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:27151800-27152600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:27151800-27152600	Enhancers	Osteobl	bone
42	chr7:27151800-27152800	Active TSS	Stomach Smooth Muscle	stomach
43	chr7:27151800-27153800	Active TSS	HMEC	breast
44	chr7:27151800-27157000	Active TSS	Right Atrium	heart
45	chr7:27152000-27152600	Weak transcription	Stomach Mucosa	stomach
46	chr7:27152000-27152800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:27152000-27154000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:27152000-27154000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:27152200-27153200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:27152200-27153200	Bivalent/Poised TSS	Fetal Thymus	thymus

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