Variant report

Variant	rs57935379
Chromosome Location	chr8:67254895-67254896
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	chr8:67242687..67244841-chr8:67253124..67255055,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10095385	0.87[ASN][1000 genomes]
rs17404672	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17405528	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2114487	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162420	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2555576	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2555579	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56256543	0.90[AMR][1000 genomes]
rs56332328	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56747323	1.00[ASN][1000 genomes]
rs58055402	0.87[ASN][1000 genomes]
rs60331121	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62511161	0.87[ASN][1000 genomes]
rs62511170	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62511944	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62511945	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62511946	0.87[ASN][1000 genomes]
rs62511947	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62511948	0.87[ASN][1000 genomes]
rs62511950	0.87[ASN][1000 genomes]
rs62511951	0.87[ASN][1000 genomes]
rs6472272	0.87[ASN][1000 genomes]
rs6984456	0.87[ASN][1000 genomes]
rs7002496	0.87[ASN][1000 genomes]
rs7010555	0.87[ASN][1000 genomes]
rs7015637	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73691528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813259	0.87[ASN][1000 genomes]
rs7828555	0.81[EUR][1000 genomes]
rs7834793	0.87[ASN][1000 genomes]
rs7835343	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7846153	1.00[ASN][1000 genomes]
rs9693831	1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs57935379	ADHFE1	cis	Artery Tibial	GTEx
rs57935379	ADHFE1	cis	Esophagus Mucosa	GTEx
rs57935379	ADHFE1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67252600-67266800	Weak transcription	Psoas Muscle	Psoas
2	chr8:67253000-67256600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:67253000-67256800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:67253800-67259600	Enhancers	Placenta	Placenta

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