Variant report

Variant	rs56697178
Chromosome Location	chr1:159251597-159251598
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	MAFK	chr1:159251211-159251810	HepG2	liver:	n/a	chr1:159251703-159251714 chr1:159251704-159251715 chr1:159251702-159251716 chr1:159251703-159251714 chr1:159251317-159251332 chr1:159251703-159251718

Variant related genes	Relation type
OR10J2P	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10489850	0.98[AFR][1000 genomes]
rs10489851	0.98[AFR][1000 genomes]
rs10489852	0.98[AFR][1000 genomes]
rs10489853	0.98[AFR][1000 genomes]
rs10489854	0.91[EUR][1000 genomes]
rs10489855	0.91[EUR][1000 genomes]
rs10908703	0.97[ASN][1000 genomes]
rs11265159	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265164	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12074418	0.98[AFR][1000 genomes]
rs12074452	0.92[AFR][1000 genomes]
rs12078114	0.98[AFR][1000 genomes]
rs12078168	0.98[AFR][1000 genomes]
rs12079229	0.98[AFR][1000 genomes]
rs12082893	0.98[AFR][1000 genomes]
rs12083313	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085001	0.96[AFR][1000 genomes]
rs12085686	0.98[AFR][1000 genomes]
rs12086871	0.98[AFR][1000 genomes]
rs12087219	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12096257	0.98[AFR][1000 genomes]
rs12097396	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137096	0.84[ASN][1000 genomes]
rs12564837	0.91[EUR][1000 genomes]
rs13374880	0.98[AFR][1000 genomes]
rs13374886	0.95[AFR][1000 genomes]
rs16841957	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841967	0.91[EUR][1000 genomes]
rs16841970	0.98[AFR][1000 genomes]
rs2269718	0.83[EUR][1000 genomes]
rs2269719	0.83[EUR][1000 genomes]
rs2325915	0.84[EUR][1000 genomes]
rs2325923	0.98[AFR][1000 genomes]
rs2325924	0.92[ASN][1000 genomes]
rs2325925	0.98[AFR][1000 genomes]
rs2325927	0.98[AFR][1000 genomes]
rs28537540	0.98[AFR][1000 genomes]
rs3893415	0.97[AFR][1000 genomes]
rs4255380	0.96[AFR][1000 genomes]
rs4534374	0.98[AFR][1000 genomes]
rs4568831	0.98[AFR][1000 genomes]
rs59012264	0.92[ASN][1000 genomes]
rs60861070	1.00[ASN][1000 genomes]
rs6670082	0.98[AFR][1000 genomes]
rs6670592	0.98[AFR][1000 genomes]
rs6670703	0.94[AFR][1000 genomes]
rs6673514	0.98[AFR][1000 genomes]
rs6695631	0.98[AFR][1000 genomes]
rs6696230	0.98[AFR][1000 genomes]
rs72633670	0.85[EUR][1000 genomes]
rs73027932	0.98[AFR][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	nsv872487	chr1:159196765-159342439	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv872488	chr1:159218266-159336948	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159246000-159251800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:159249800-159251800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:159250600-159252400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:159250800-159251600	Enhancers	A549	lung

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