Variant report

Variant	rs4047517
Chromosome Location	chr12:123938793-123938794
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	CEBPB	chr12:123938663-123938859	HepG2	liver:	n/a	chr12:123938775-123938786

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123936540..123939308-chr12:123941590..123944432,3	MCF-7	breast:
2	chr12:123848128..123849893-chr12:123937989..123939735,2	MCF-7	breast:

Variant related genes	Relation type
SNRNP35	TF binding region
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11497313	1.00[ASN][1000 genomes]
rs11507739	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11507740	0.96[EUR][1000 genomes]
rs11516178	1.00[ASN][1000 genomes]
rs11522340	1.00[ASN][1000 genomes]
rs11534428	1.00[ASN][1000 genomes]
rs11559494	1.00[ASN][1000 genomes]
rs11560820	1.00[ASN][1000 genomes]
rs13303080	0.85[EUR][1000 genomes]
rs13303107	0.96[EUR][1000 genomes]
rs13303167	0.89[EUR][1000 genomes]
rs13303200	0.85[EUR][1000 genomes]
rs13303266	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13303358	1.00[ASN][1000 genomes]
rs28413969	0.94[EUR][1000 genomes]
rs28483351	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497891	0.89[EUR][1000 genomes]
rs28557411	0.90[EUR][1000 genomes]
rs28613273	1.00[ASN][1000 genomes]
rs28667043	0.91[EUR][1000 genomes]
rs28728075	1.00[ASN][1000 genomes]
rs28829651	1.00[ASN][1000 genomes]
rs3087496	1.00[ASN][1000 genomes]
rs34031619	1.00[ASN][1000 genomes]
rs34047494	0.91[EUR][1000 genomes]
rs34351395	0.85[EUR][1000 genomes]
rs34762274	0.85[EUR][1000 genomes]
rs35090528	0.92[EUR][1000 genomes]
rs35157218	0.89[EUR][1000 genomes]
rs35322317	1.00[ASN][1000 genomes]
rs35370271	0.92[EUR][1000 genomes]
rs35970945	0.91[EUR][1000 genomes]
rs36084544	0.84[EUR][1000 genomes]
rs4078291	1.00[ASN][1000 genomes]
rs4479070	1.00[ASN][1000 genomes]
rs56412477	0.91[EUR][1000 genomes]
rs56860279	0.96[EUR][1000 genomes]
rs6606747	1.00[ASN][1000 genomes]
rs6606748	0.94[EUR][1000 genomes]
rs71456799	0.96[EUR][1000 genomes]
rs7297035	0.91[EUR][1000 genomes]
rs7300562	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306670	0.94[EUR][1000 genomes]
rs7315901	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412280	1.00[ASN][1000 genomes]
rs7960816	0.96[EUR][1000 genomes]
rs7975122	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7975636	1.00[ASN][1000 genomes]
rs7978323	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330649	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330650	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697264	1.00[ASN][1000 genomes]
rs9697459	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697581	0.85[EUR][1000 genomes]
rs9697616	1.00[ASN][1000 genomes]
rs9697628	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697735	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9723192	1.00[ASN][1000 genomes]
rs9777813	1.00[ASN][1000 genomes]
rs9778001	0.86[EUR][1000 genomes]
rs9778112	1.00[ASN][1000 genomes]
rs9803116	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3374700	chr12:123936424-123938972	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123933400-123942200	Weak transcription	Thymus	Thymus
2	chr12:123934200-123942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:123934800-123939400	Weak transcription	K562	blood
4	chr12:123937200-123942200	Weak transcription	Placenta	Placenta
5	chr12:123938200-123942400	Weak transcription	HepG2	liver

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