Variant report

Variant	rs1477948
Chromosome Location	chr8:54388993-54388994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10088812	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10089658	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10101861	0.83[ASN][1000 genomes]
rs10103617	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10105375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216984	0.83[ASN][1000 genomes]
rs10958365	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10958367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10958368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12235032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542325	0.87[ASN][1000 genomes]
rs12544025	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546500	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251975	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13262157	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13265261	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1351064	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1351065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477949	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1477977	0.87[ASN][1000 genomes]
rs1477978	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477980	0.87[ASN][1000 genomes]
rs2376147	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473825	0.84[ASN][1000 genomes]
rs6473831	0.81[AMR][1000 genomes]
rs6473832	0.81[AMR][1000 genomes]
rs6473833	0.81[AMR][1000 genomes]
rs6473834	0.81[AMR][1000 genomes]
rs6982097	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6989685	0.85[ASN][1000 genomes]
rs6990690	0.81[AMR][1000 genomes]
rs6993966	0.83[ASN][1000 genomes]
rs7001883	0.87[ASN][1000 genomes]
rs7007299	0.85[ASN][1000 genomes]
rs7835893	0.97[EUR][1000 genomes];0.87[ASN][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	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3407557	chr8:54348448-54395357	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54382800-54389800	Weak transcription	Fetal Heart	heart
2	chr8:54382800-54399400	Weak transcription	Aorta	Aorta

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