Variant report

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

rs_ID	r²[population]
rs10218478	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118902	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12024555	0.81[EUR][1000 genomes]
rs12033415	0.80[EUR][1000 genomes]
rs12120034	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12123928	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124556	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126297	1.00[ASN][1000 genomes]
rs12140498	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12140529	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12140604	0.80[EUR][1000 genomes]
rs13375176	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17011141	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17011146	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17011182	0.80[EUR][1000 genomes]
rs6687758	0.81[EUR][1000 genomes]
rs6691195	0.81[EUR][1000 genomes]
rs6695584	0.81[EUR][1000 genomes]
rs72740077	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520544	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949618	0.80[AMR][1000 genomes];0.88[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	nsv945304	chr1:222114347-222131255	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12137323	RP11-815M8.1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222115400-222131600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:222123400-222129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:222123800-222131200	Weak transcription	HSMM	muscle

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