Variant report

Variant	rs72714450
Chromosome Location	chr8:131924321-131924322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10098645	0.83[EUR][1000 genomes]
rs10956557	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11779887	0.83[EUR][1000 genomes]
rs11780690	0.85[EUR][1000 genomes]
rs11782328	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12155610	0.85[EUR][1000 genomes]
rs12543858	0.82[ASN][1000 genomes]
rs13257796	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13261396	0.85[EUR][1000 genomes]
rs1369451	0.83[EUR][1000 genomes]
rs17248206	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17326441	0.84[EUR][1000 genomes]
rs2014815	0.83[EUR][1000 genomes]
rs28536655	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34950289	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35981604	0.83[EUR][1000 genomes]
rs56251739	0.82[ASN][1000 genomes]
rs56293105	0.85[EUR][1000 genomes]
rs72714455	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7460331	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7832185	0.80[ASN][1000 genomes]
rs7842857	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7843127	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1026579	chr8:131922531-132695045	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131917600-131933600	Weak transcription	Brain Angular Gyrus	brain
2	chr8:131920200-131925600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:131920400-131925800	Weak transcription	HSMM	muscle
4	chr8:131920600-131925800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:131921800-131925000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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