Variant report

Variant	rs56011712
Chromosome Location	chr1:59070409-59070410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10157697	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465804	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207272	0.91[EUR][1000 genomes]
rs11576450	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11578449	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11578722	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11578726	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11579447	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11580213	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11581243	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11582185	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11584050	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11584589	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11587264	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590060	0.80[AMR][1000 genomes]
rs11811483	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811899	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12562546	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12564701	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12565004	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566630	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567616	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492719	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17372453	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273045	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2407019	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34204484	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35584156	0.84[EUR][1000 genomes]
rs36084158	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55742964	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56097207	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57043686	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57166198	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57925801	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58488453	0.84[AMR][1000 genomes]
rs58575274	0.82[EUR][1000 genomes]
rs58626572	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59450768	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59469255	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59590779	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60217618	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60382465	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60698357	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60869327	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61070091	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61203902	0.84[AMR][1000 genomes]
rs61552468	0.87[EUR][1000 genomes]
rs6661394	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6661513	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6661551	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6661592	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6661808	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6661896	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6661969	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6686203	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72674199	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676705	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676710	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72676712	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72676714	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72676715	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676717	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676720	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676723	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676724	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676726	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676729	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676731	0.84[AMR][1000 genomes];0.87[EUR][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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59060600-59082200	Weak transcription	HUVEC	blood vessel
2	chr1:59061200-59074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:59062600-59074600	Weak transcription	NHEK	skin
4	chr1:59062800-59074800	Weak transcription	HMEC	breast
5	chr1:59065200-59074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:59067400-59074200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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