Variant report

Variant	rs8008544
Chromosome Location	chr14:25570197-25570198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10133686	0.81[EUR][1000 genomes]
rs10138503	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10143439	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11847778	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11850786	0.81[CEU][hapmap]
rs17109382	0.81[CEU][hapmap]
rs17109406	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs17109462	0.81[CEU][hapmap]
rs17109515	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs17109537	1.00[CEU][hapmap]
rs17109547	0.83[EUR][1000 genomes]
rs1952500	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1952507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1958381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs1958383	0.81[EUR][1000 genomes]
rs2094659	0.91[CEU][hapmap]
rs2332465	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61979908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61979911	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61979914	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574172	0.85[EUR][1000 genomes]
rs7147345	0.82[EUR][1000 genomes]
rs7152812	0.88[CEU][hapmap]
rs7153837	0.91[CEU][hapmap];0.91[TSI][hapmap]
rs7155485	0.81[CEU][hapmap]
rs8008618	0.91[CEU][hapmap]
rs8009099	0.91[CEU][hapmap];0.84[CHD][hapmap];0.91[TSI][hapmap]
rs913684	0.81[EUR][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	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3490801	chr14:25560793-25675699	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3490802	chr14:25560793-25675699	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8008544	NRL	cis	parietal	SCAN
rs8008544	DHRS1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25566600-25573400	Weak transcription	Placenta Amnion	Placenta Amnion

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