Variant report

Variant	rs17320665
Chromosome Location	chr8:67321131-67321132
allele	G/T
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:30)

rs_ID	r²[population]
rs10092151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095818	1.00[ASN][1000 genomes]
rs10099908	1.00[ASN][1000 genomes]
rs10100008	1.00[ASN][1000 genomes]
rs10108841	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112574	0.93[CEU][hapmap]
rs10113313	1.00[ASN][1000 genomes]
rs1030420	0.93[CEU][hapmap];0.84[TSI][hapmap]
rs11782087	1.00[ASN][1000 genomes]
rs11784186	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984980	1.00[ASN][1000 genomes]
rs1426905	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473817	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932829	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322654	1.00[ASN][1000 genomes]
rs1863639	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377354	1.00[ASN][1000 genomes]
rs28497070	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28505853	1.00[ASN][1000 genomes]
rs28609784	1.00[ASN][1000 genomes]
rs28664134	1.00[ASN][1000 genomes]
rs4291250	1.00[ASN][1000 genomes]
rs4448262	1.00[ASN][1000 genomes]
rs60798600	1.00[ASN][1000 genomes]
rs6472275	0.80[EUR][1000 genomes]
rs7006908	1.00[ASN][1000 genomes]
rs7014980	0.93[CEU][hapmap]
rs73691530	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657084	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17320665	ADHFE1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67317400-67330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67319800-67330400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:67320400-67321600	Weak transcription	Primary T cells from cord blood	blood

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