Variant report

Variant	rs11079831
Chromosome Location	chr17:46715405-46715406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr17:46715108-46715696	A549	lung:	n/a	n/a
2	FOS	chr17:46715191-46715666	MCF10A-Er-Src	breast:	n/a	chr17:46715361-46715369 chr17:46715361-46715369 chr17:46715362-46715369
3	CTCF	chr17:46715260-46715410	GM06990	blood:	n/a	n/a
4	STAT3	chr17:46715274-46715628	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFF	chr17:46715314-46715556	HepG2	liver:	n/a	chr17:46715403-46715421
6	CEBPB	chr17:46715143-46715775	A549	lung:	n/a	chr17:46715516-46715527 chr17:46715679-46715692 chr17:46715480-46715491
7	STAT3	chr17:46715238-46715592	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr17:46715391-46715633	K562	blood:	n/a	chr17:46715516-46715527 chr17:46715480-46715491
9	FOS	chr17:46715190-46715700	MCF10A-Er-Src	breast:	n/a	chr17:46715361-46715369 chr17:46715361-46715369 chr17:46715362-46715369
10	FOSL2	chr17:46715087-46715651	A549	lung:	n/a	chr17:46715361-46715369 chr17:46715361-46715369 chr17:46715362-46715369
11	MAFK	chr17:46715337-46715559	K562	blood:	n/a	chr17:46715359-46715369 chr17:46715404-46715419
12	MAFK	chr17:46715269-46715523	HepG2	liver:	n/a	chr17:46715359-46715369 chr17:46715404-46715419
13	CREB1	chr17:46715296-46715527	A549	lung:	n/a	n/a
14	FOS	chr17:46715188-46715642	MCF10A-Er-Src	breast:	n/a	chr17:46715361-46715369 chr17:46715361-46715369 chr17:46715362-46715369
15	FOS	chr17:46715204-46715616	MCF10A-Er-Src	breast:	n/a	chr17:46715361-46715369 chr17:46715361-46715369 chr17:46715362-46715369
16	CEBPB	chr17:46715264-46715692	IMR90	lung:	n/a	chr17:46715516-46715527 chr17:46715679-46715692 chr17:46715480-46715491
17	CEBPB	chr17:46715301-46715682	A549	lung:	n/a	chr17:46715516-46715527 chr17:46715480-46715491
18	POLR2A	chr17:46715402-46715451	MCF-7	breast:	n/a	n/a
19	MAFK	chr17:46715222-46715597	IMR90	lung:	n/a	chr17:46715359-46715369 chr17:46715404-46715419
20	CEBPB	chr17:46715325-46715668	A549	lung:	n/a	chr17:46715516-46715527 chr17:46715480-46715491
21	CEBPB	chr17:46715331-46715636	HepG2	liver:	n/a	chr17:46715516-46715527 chr17:46715480-46715491
22	MYC	chr17:46715240-46715615	MCF10A-Er-Src	breast:	n/a	chr17:46715360-46715369
23	MAFK	chr17:46715258-46715570	HepG2	liver:	n/a	chr17:46715359-46715369 chr17:46715404-46715419
24	MYC	chr17:46715293-46715631	MCF10A-Er-Src	breast:	n/a	chr17:46715360-46715369
25	JUND	chr17:46715221-46715579	A549	lung:	n/a	chr17:46715361-46715369 chr17:46715361-46715369 chr17:46715362-46715369
26	STAT3	chr17:46715331-46715548	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46574929..46577618-chr17:46713950..46715500,2	K562	blood:
2	chr17:46124912..46127362-chr17:46714031..46715932,2	MCF-7	breast:

Variant related genes	Relation type
HOXB7	TF binding region
ENSG00000082641	Chromatin interaction
ENSG00000263412	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16942777	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096645	0.80[ASN][1000 genomes]
rs3744774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809776	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809777	0.87[ASN][1000 genomes]
rs3809778	0.83[ASN][1000 genomes]
rs3826540	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3826541	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4619445	0.87[ASN][1000 genomes]
rs56347129	1.00[AFR][1000 genomes]
rs73985889	0.85[ASN][1000 genomes]
rs73985890	0.81[ASN][1000 genomes]
rs7405887	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs881012	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8844	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs890433	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
3	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
4	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
5	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
6	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
7	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
8	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
9	nsv543380	chr17:46686151-46721371	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46713600-46716800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:46714000-46716000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr17:46714400-46716200	Enhancers	K562	blood
4	chr17:46714400-46716800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:46714600-46717800	Enhancers	A549	lung
6	chr17:46714800-46715600	Active TSS	Rectal Smooth Muscle	rectum
7	chr17:46714800-46715800	Enhancers	HSMM	muscle
8	chr17:46715400-46715600	Bivalent Enhancer	HMEC	breast
9	chr17:46715400-46715800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr17:46715400-46716600	Active TSS	Colonic Mucosa	Colon

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