Variant report

Variant	rs60331121
Chromosome Location	chr8:67312617-67312618
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67310457..67313405-chr8:67317320..67319521,2	MCF-7	breast:
2	chr8:67311366..67312949-chr8:67325841..67327925,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs17404672	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17405528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2114487	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2433593	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2433594	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465983	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555563	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2555564	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2555567	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555576	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555579	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555588	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2555589	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2718989	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2718998	0.87[AMR][1000 genomes]
rs56256543	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57935379	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62511170	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511216	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511944	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62511945	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62511947	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7014306	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7015637	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73691528	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7834904	0.86[AFR][1000 genomes]
rs7835343	0.90[AFR][1000 genomes];0.89[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60331121	ADHFE1	cis	Thyroid	GTEx
rs60331121	ADHFE1	cis	Artery Tibial	GTEx
rs60331121	ADHFE1	cis	Esophagus Mucosa	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	chr8:67307400-67320000	Weak transcription	Liver	Liver
3	chr8:67311400-67318600	Weak transcription	Gastric	stomach
4	chr8:67312600-67315000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links