Variant report

Variant	rs8075444
Chromosome Location	chr17:16872318-16872319
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11656106	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12937629	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12950077	1.00[ASN][1000 genomes]
rs34562485	1.00[ASN][1000 genomes]
rs34650767	1.00[ASN][1000 genomes]
rs34932194	1.00[ASN][1000 genomes]
rs35286584	1.00[ASN][1000 genomes]
rs35529291	1.00[ASN][1000 genomes]
rs35612151	0.86[ASN][1000 genomes]
rs35614113	1.00[ASN][1000 genomes]
rs35655892	1.00[ASN][1000 genomes]
rs35830162	1.00[ASN][1000 genomes]
rs4985724	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985725	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985735	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985783	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71362292	1.00[ASN][1000 genomes]
rs7209074	0.82[EUR][1000 genomes]
rs7216399	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7222430	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7223652	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv907726	chr17:16821204-16875636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8075444	LOC96597	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16867400-16883800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16870200-16875600	Active TSS	GM12878-XiMat	blood
3	chr17:16871400-16873200	Enhancers	Dnd41	blood
4	chr17:16871600-16873400	Enhancers	Primary B cells from cord blood	blood
5	chr17:16872200-16872600	Enhancers	Primary B cells from peripheral blood	blood

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