Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1860439	0.87[AFR][1000 genomes]
rs193712	0.87[AFR][1000 genomes]
rs2436437	0.87[AFR][1000 genomes]
rs248106	0.81[AFR][1000 genomes]
rs248111	0.81[AFR][1000 genomes]
rs248112	0.85[AFR][1000 genomes]
rs248114	0.85[AFR][1000 genomes]
rs248117	0.85[AFR][1000 genomes]
rs248119	0.84[AFR][1000 genomes]
rs248122	0.86[AFR][1000 genomes]
rs248124	0.85[AFR][1000 genomes]
rs248125	0.87[AFR][1000 genomes]
rs248127	0.87[AFR][1000 genomes]
rs248128	0.87[AFR][1000 genomes]
rs248129	0.87[AFR][1000 genomes]
rs248131	0.87[AFR][1000 genomes]
rs2532882	0.87[AFR][1000 genomes]
rs3095137	0.87[AFR][1000 genomes]
rs3097870	0.86[AFR][1000 genomes]
rs4835925	0.83[AFR][1000 genomes]
rs4836315	0.83[AFR][1000 genomes]
rs6859327	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6887471	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6894083	0.84[AMR][1000 genomes]
rs7700812	0.86[AFR][1000 genomes]
rs885699	0.87[AFR][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12332750	C5orf63	cis	Nerve Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126529200-126539200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:126533000-126533600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:126533000-126534200	Enhancers	Liver	Liver
4	chr5:126533000-126534200	Enhancers	HepG2	liver
5	chr5:126533400-126533600	Enhancers	HUES6 Cell Line	embryonic stem cell

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