Variant report

Variant	rs13268440
Chromosome Location	chr8:50000873-50000874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10435575	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504073	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957363	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990854	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545097	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12680366	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13270448	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1828495	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1858312	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186891	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1876717	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2137013	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385127	0.89[ASN][1000 genomes]
rs2385229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385230	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs341806	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs341828	0.80[AMR][1000 genomes]
rs341829	0.80[AMR][1000 genomes]
rs4873093	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873094	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873095	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873099	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873100	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873303	0.80[ASN][1000 genomes]
rs4873308	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873310	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983929	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984804	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005693	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011891	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013425	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7835336	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs974781	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv3401785	chr8:49986448-50018640	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3383502	chr8:49991448-50020707	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1023325	chr8:49994793-50050571	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13268440	C8orf22	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49998800-50004000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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