Variant report

Variant	rs72931465
Chromosome Location	chr2:177631498-177631499
allele	C/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	MAFF	chr2:177631492-177631569	HepG2	liver:	n/a	chr2:177631531-177631549
2	MAFK	chr2:177631390-177631653	HepG2	liver:	n/a	n/a
3	MAFK	chr2:177631463-177631595	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000230552	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1106473	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513884	1.00[ASN][1000 genomes]
rs16864414	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864421	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864480	1.00[ASN][1000 genomes]
rs17578186	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635560	1.00[ASN][1000 genomes]
rs4894199	1.00[ASN][1000 genomes]
rs66596127	1.00[ASN][1000 genomes]
rs72931448	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931451	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931452	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931457	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931460	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931461	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931463	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934838	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934842	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934846	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934850	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934853	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934864	1.00[ASN][1000 genomes]
rs72934892	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72936942	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577987	1.00[ASN][1000 genomes]
rs7578081	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv524841	chr2:177628258-177632714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177623400-177634400	Weak transcription	Right Atrium	heart
2	chr2:177628800-177655400	Weak transcription	Ovary	ovary
3	chr2:177629200-177633400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:177630600-177632800	Weak transcription	Gastric	stomach
5	chr2:177630600-177634000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:177630800-177631800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:177630800-177633000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:177631200-177638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:177631400-177632800	Weak transcription	Primary B cells from peripheral blood	blood

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