Variant report

Variant	rs6991180
Chromosome Location	chr8:67330132-67330133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10093516	0.98[ASN][1000 genomes]
rs10435613	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10435614	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957373	0.97[ASN][1000 genomes]
rs11784121	0.86[ASN][1000 genomes]
rs12265	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs12541243	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547055	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs12674507	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675850	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[ASN][1000 genomes]
rs13259712	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13263790	0.95[EUR][1000 genomes]
rs13274386	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13278628	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13282925	0.86[ASN][1000 genomes]
rs16932908	0.82[CEU][hapmap]
rs2555580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28532882	0.99[ASN][1000 genomes]
rs34469344	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35150383	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35403851	0.90[EUR][1000 genomes]
rs35502468	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35929661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3824263	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs6472275	0.95[ASN][1000 genomes]
rs6651308	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs66815352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180970	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9643398	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs9643582	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]

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
rs6991180	ADHFE1	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 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	chr8:67327400-67330400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:67328000-67330400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:67328000-67330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:67328000-67330400	Weak transcription	NHDF-Ad	bronchial
7	chr8:67328000-67333400	Weak transcription	Osteobl	bone
8	chr8:67329000-67330800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:67329200-67331200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:67329400-67330800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:67329400-67330800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:67330000-67330800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr8:67330000-67330800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:67330000-67330800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:67330000-67331000	Enhancers	Cortex derived primary cultured neurospheres	brain

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