Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs152906	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs181850	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs185177	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251213	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251216	0.91[EUR][1000 genomes]
rs251387	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs251389	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs251390	0.89[EUR][1000 genomes]
rs251391	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2546147	0.84[ASN][1000 genomes]
rs2617621	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs36693	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36694	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36697	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36698	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36700	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36701	0.80[EUR][1000 genomes]
rs36702	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36712	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36715	0.86[EUR][1000 genomes]
rs40527	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42916	0.86[EUR][1000 genomes];0.89[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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv969272	chr5:127544309-127551686	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs251214	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127537600-127549200	Weak transcription	A549	lung
2	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:127544200-127544800	Enhancers	Fetal Heart	heart
4	chr5:127544600-127552200	Weak transcription	Left Ventricle	heart

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