Variant report

Variant	rs17405528
Chromosome Location	chr8:67326892-67326893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67324555..67327528-chr8:67340985..67343209,2	K562	blood:
2	chr8:67311366..67312949-chr8:67325841..67327925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246145	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000179041	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17404672	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2114487	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2433593	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2433594	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2433596	1.00[CHD][hapmap]
rs2465983	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555563	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2555564	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2555567	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555573	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes]
rs2555576	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555579	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555586	1.00[CHD][hapmap]
rs2555588	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2555589	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2718989	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2718997	0.93[CEU][hapmap]
rs2718998	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.93[AMR][1000 genomes]
rs56256543	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57935379	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60331121	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511170	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511216	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511944	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62511945	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62511947	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7014306	0.93[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7015637	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73691528	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7835343	0.87[AMR][1000 genomes];0.91[EUR][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17405528	ADHFE1	cis	Esophagus Mucosa	GTEx
rs17405528	ADHFE1	cis	cerebellum	SCAN
rs17405528	ADHFE1	cis	Thyroid	GTEx
rs17405528	ADHFE1	cis	parietal	SCAN
rs17405528	ADHFE1	cis	multi-tissue	Pritchard
rs17405528	ADHFE1	cis	Artery Tibial	GTEx

Chromatin state (count:10 , 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	chr8:67326800-67327200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:67326800-67327200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:67326800-67327200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:67326800-67327400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:67326800-67327600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:67326800-67328000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:67326800-67328000	Enhancers	NHDF-Ad	bronchial
10	chr8:67326800-67328000	Enhancers	Osteobl	bone

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