Variant report

Variant	rs2081649
Chromosome Location	chr8:67309027-67309028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67303323..67305549-chr8:67308982..67311885,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10088592	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1025228	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030419	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957372	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12541098	0.84[ASN][1000 genomes]
rs1543907	0.82[EUR][1000 genomes]
rs1559885	0.97[ASN][1000 genomes]
rs1963852	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2162421	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2357895	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2465982	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2465984	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2465985	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2555565	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2718988	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2718990	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2719009	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4737786	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6472269	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6472270	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7002723	0.94[ASN][1000 genomes]
rs7005366	0.82[EUR][1000 genomes]
rs753082	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7845448	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs890516	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9693689	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs977467	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2081649	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs2081649	C8orf46	cis	Esophagus Muscularis	GTEx
rs2081649	C8orf46	cis	Thyroid	GTEx
rs2081649	ADHFE1	cis	Artery Tibial	GTEx
rs2081649	C8orf46	cis	Artery Tibial	GTEx
rs2081649	C8orf46	cis	Adipose Subcutaneous	GTEx
rs2081649	ADHFE1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67301800-67319800	Weak transcription	Aorta	Aorta
2	chr8:67304600-67311200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67307400-67320000	Weak transcription	Liver	Liver
4	chr8:67307600-67310400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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