Variant report

Variant	rs8038365
Chromosome Location	chr15:75375740-75375741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75375275..75377276-chr15:75389324..75392247,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs12148355	0.84[ASN][1000 genomes]
rs12591175	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12591994	0.81[ASN][1000 genomes]
rs12594117	0.81[ASN][1000 genomes]
rs2289582	0.80[ASN][1000 genomes]
rs2304904	0.81[ASN][1000 genomes]
rs28394281	0.81[ASN][1000 genomes]
rs3812943	0.81[ASN][1000 genomes]
rs3816261	0.96[ASN][1000 genomes]
rs3910748	0.81[ASN][1000 genomes]
rs58645417	0.81[ASN][1000 genomes]
rs59303424	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6495142	0.81[ASN][1000 genomes]
rs6495146	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6495148	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7166105	0.97[ASN][1000 genomes]
rs7173218	0.81[ASN][1000 genomes]
rs7177109	0.98[ASN][1000 genomes]
rs72475969	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73432941	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73438537	0.84[ASN][1000 genomes]
rs73438554	0.97[ASN][1000 genomes]
rs73438569	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74023908	0.82[ASN][1000 genomes]
rs74023935	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74023936	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8024931	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033125	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8034149	0.80[ASN][1000 genomes]
rs8039433	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8038365	SCAMP5	cis	Thyroid	GTEx
rs8038365	SCAMP5	cis	lung	GTEx
rs8038365	SCAMP5	cis	Artery Tibial	GTEx
rs8038365	SCAMP5	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75374600-75375800	Weak transcription	Primary monocytes fromperipheralblood	blood

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