Variant report

Variant	rs4487744
Chromosome Location	chr8:125422599-125422600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086126	0.88[EUR][1000 genomes]
rs10091131	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10111265	0.86[EUR][1000 genomes]
rs10113274	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10113293	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10956181	0.81[EUR][1000 genomes]
rs11991060	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11993256	0.80[AMR][1000 genomes]
rs12677019	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13253772	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13264575	0.81[AMR][1000 genomes]
rs13266094	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13269278	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13277120	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13279186	0.82[AMR][1000 genomes]
rs4346978	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4376484	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4425736	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4427153	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4457313	0.82[AMR][1000 genomes]
rs60878192	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6998593	0.83[AFR][1000 genomes]
rs7460859	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839446	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9643196	0.84[EUR][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 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	chr8:125420200-125422600	Enhancers	Fetal Heart	heart
2	chr8:125421600-125422800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:125421800-125425600	Weak transcription	Liver	Liver
4	chr8:125422400-125426400	Weak transcription	Fetal Intestine Small	intestine

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