Variant report

Variant	rs13270448
Chromosome Location	chr8:50001216-50001217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10435575	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504073	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957363	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990854	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545097	0.83[ASN][1000 genomes]
rs13268440	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1828495	0.83[ASN][1000 genomes]
rs1858312	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186891	0.88[EUR][1000 genomes]
rs1876717	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2137013	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2385127	0.85[ASN][1000 genomes]
rs2385229	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385230	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs341806	0.86[EUR][1000 genomes]
rs4873093	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873094	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873095	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873099	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873100	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873308	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873310	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983929	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984804	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005693	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011891	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013425	0.82[ASN][1000 genomes]
rs7835336	0.82[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
rs13270448	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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