Variant report

Variant	rs719117
Chromosome Location	chr2:72516353-72516354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1000523	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10175915	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10178138	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10178847	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10181899	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10193543	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10204415	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221767	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1123199	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12463825	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12466026	0.88[EUR][1000 genomes]
rs12466112	0.88[EUR][1000 genomes]
rs13382986	0.91[EUR][1000 genomes]
rs13387630	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13389524	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13392314	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13409641	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430254	0.89[EUR][1000 genomes]
rs13430651	0.89[EUR][1000 genomes]
rs17673916	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17724205	0.88[EUR][1000 genomes]
rs17724860	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17725024	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2080044	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2159823	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4852859	0.89[EUR][1000 genomes]
rs55764675	0.91[EUR][1000 genomes]
rs55970539	0.91[EUR][1000 genomes]
rs56045434	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56143801	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56299443	0.91[EUR][1000 genomes]
rs62147573	0.88[EUR][1000 genomes]
rs62147589	0.89[EUR][1000 genomes]
rs62147626	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62147629	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62147636	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62149273	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709114	1.00[ASN][1000 genomes]
rs6711257	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6719255	0.93[AMR][1000 genomes];0.93[EUR][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv961792	chr2:72515945-72518734	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs719117	CYP26B1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72516200-72517400	Enhancers	NHDF-Ad	bronchial

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