Variant report

Variant	rs4873095
Chromosome Location	chr8:49990166-49990167
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49977011..49978877-chr8:49988078..49990673,2	K562	blood:
2	chr8:49990025..49992623-chr8:49996686..49998822,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10435575	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504070	0.81[AFR][1000 genomes]
rs10504073	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957356	0.82[AFR][1000 genomes]
rs10957363	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11990854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545097	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12680366	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13268440	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270448	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1828495	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1858312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186891	0.91[EUR][1000 genomes]
rs1876717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2137013	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2385127	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2385229	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2385230	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs341806	0.89[EUR][1000 genomes]
rs4873093	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873099	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873100	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873308	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873310	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56057508	0.82[AFR][1000 genomes]
rs6983929	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984804	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7005693	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013425	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7835336	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs974781	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv968545	chr8:49990010-49993737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4873095	C8orf22	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49984600-49991400	Weak transcription	K562	blood
2	chr8:49987200-49998800	Weak transcription	Psoas Muscle	Psoas
3	chr8:49989000-49990800	Weak transcription	Gastric	stomach
4	chr8:49989000-49990800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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