Variant report

Variant	rs4548471
Chromosome Location	chr1:57100887-57100888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10749708	0.90[ASN][1000 genomes]
rs10789036	0.95[ASN][1000 genomes]
rs10789038	0.90[ASN][1000 genomes]
rs10789040	0.88[ASN][1000 genomes]
rs10789041	0.85[ASN][1000 genomes]
rs10889006	0.90[ASN][1000 genomes]
rs10889008	0.88[ASN][1000 genomes]
rs10889009	0.88[ASN][1000 genomes]
rs11206872	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11206884	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206885	0.90[ASN][1000 genomes]
rs11206886	0.94[ASN][1000 genomes]
rs11206888	0.90[ASN][1000 genomes]
rs11206889	0.90[ASN][1000 genomes]
rs11206890	0.89[ASN][1000 genomes]
rs11206895	0.88[ASN][1000 genomes]
rs11589368	0.88[ASN][1000 genomes]
rs11804779	0.88[ASN][1000 genomes]
rs12021768	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021851	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023668	0.88[ASN][1000 genomes]
rs12032999	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12046428	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048572	0.88[ASN][1000 genomes]
rs12073311	0.88[ASN][1000 genomes]
rs12078260	0.95[ASN][1000 genomes]
rs12092267	0.88[ASN][1000 genomes]
rs12097148	0.86[ASN][1000 genomes]
rs12121876	0.82[EUR][1000 genomes]
rs12738355	0.84[ASN][1000 genomes]
rs13374924	0.86[ASN][1000 genomes]
rs1418442	0.88[ASN][1000 genomes]
rs1986660	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404718	0.90[ASN][1000 genomes]
rs2404986	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2404987	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2404992	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404993	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746353	0.86[ASN][1000 genomes]
rs2796517	0.84[ASN][1000 genomes]
rs2796519	0.84[ASN][1000 genomes]
rs2796523	0.84[ASN][1000 genomes]
rs2796527	0.84[ASN][1000 genomes]
rs4551620	0.90[ASN][1000 genomes]
rs4562656	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4568857	0.82[EUR][1000 genomes]
rs4584419	0.95[ASN][1000 genomes]
rs59223968	0.90[ASN][1000 genomes]
rs61772962	0.90[ASN][1000 genomes]
rs61774285	0.89[EUR][1000 genomes]
rs61774287	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61774288	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6588641	0.90[ASN][1000 genomes]
rs72666470	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7419053	0.88[ASN][1000 genomes]
rs7515414	0.85[ASN][1000 genomes]
rs7519509	0.95[ASN][1000 genomes]
rs7533440	0.81[ASN][1000 genomes]
rs7545066	0.85[ASN][1000 genomes]
rs7546264	0.88[ASN][1000 genomes]
rs7547486	0.90[ASN][1000 genomes]
rs932447	0.88[ASN][1000 genomes]
rs9887834	0.88[ASN][1000 genomes]
rs9887940	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57098400-57103800	Weak transcription	Hela-S3	cervix
2	chr1:57099400-57101200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:57099400-57101200	Weak transcription	Fetal Heart	heart

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