Variant report

Variant	rs55691147
Chromosome Location	chr8:69604604-69604605
allele	C/T
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	GATA3	chr8:69604009-69604694	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr8:69604023-69604697	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr8:69603962-69604736	SK-N-SH	brain:	n/a	chr8:69603994-69604005
4	PBX3	chr8:69604130-69604676	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69603997..69607183-chr8:69609527..69612798,4	MCF-7	breast:

Variant related genes	Relation type
RNA5SP269	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11984995	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11992298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997399	0.87[EUR][1000 genomes]
rs16934792	0.80[EUR][1000 genomes]
rs16934878	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16934930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16934945	0.82[EUR][1000 genomes]
rs55718353	1.00[EUR][1000 genomes]
rs55731817	1.00[EUR][1000 genomes]
rs55820094	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55851115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194107	0.96[EUR][1000 genomes]
rs56405329	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56706627	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57624575	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58619671	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59276657	0.91[EUR][1000 genomes]
rs60577322	0.87[EUR][1000 genomes]
rs60704896	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60946548	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6651316	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6986385	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987972	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7012051	1.00[EUR][1000 genomes]
rs7013783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73683589	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73683594	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73683595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73683703	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818845	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs984415	0.92[EUR][1000 genomes]
rs984878	0.87[EUR][1000 genomes]
rs9987198	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69603400-69605200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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