Variant report

Variant	rs4376484
Chromosome Location	chr8:125425768-125425769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10086126	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10089507	0.81[CEU][hapmap]
rs10091131	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10092974	0.81[CEU][hapmap]
rs10102946	0.81[ASW][hapmap];0.84[CEU][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs10111265	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111274	0.81[AFR][1000 genomes]
rs10111526	0.93[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes]
rs10111582	0.84[AFR][1000 genomes]
rs10113274	0.81[AMR][1000 genomes]
rs10113293	0.81[AMR][1000 genomes]
rs10217100	0.84[CEU][hapmap];0.88[YRI][hapmap]
rs10956176	0.84[AMR][1000 genomes]
rs10956179	0.85[CEU][hapmap];0.91[CHD][hapmap]
rs10956181	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11786409	0.81[ASW][hapmap];0.84[CEU][hapmap];0.89[LWK][hapmap];0.88[YRI][hapmap]
rs11991060	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11998018	0.84[CEU][hapmap]
rs12677019	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12682324	0.82[AMR][1000 genomes]
rs13253772	0.81[AMR][1000 genomes]
rs13266094	0.84[EUR][1000 genomes]
rs13269278	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13277120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076119	0.81[CEU][hapmap]
rs4131904	0.84[CEU][hapmap]
rs4346978	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4351403	0.84[CEU][hapmap];0.88[YRI][hapmap]
rs4425736	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4427153	0.81[AMR][1000 genomes]
rs4440618	0.85[AMR][1000 genomes]
rs4457313	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4464954	0.81[ASW][hapmap];0.84[CEU][hapmap];0.84[YRI][hapmap]
rs4487744	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4592013	0.81[ASW][hapmap];0.84[CEU][hapmap];0.83[LWK][hapmap];0.80[MKK][hapmap]
rs6980763	0.84[CEU][hapmap]
rs6986235	0.81[CEU][hapmap];0.88[YRI][hapmap]
rs6994603	0.85[CEU][hapmap];0.91[CHD][hapmap]
rs7004771	0.81[ASW][hapmap];0.84[CEU][hapmap];0.89[LWK][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap]
rs7460859	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7839446	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643196	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4376484	IGF2BP1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125422400-125426400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:125425600-125426400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:125425600-125426600	Enhancers	Liver	Liver
4	chr8:125425600-125428200	Enhancers	Fetal Heart	heart

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