Variant report

Variant	rs10880739
Chromosome Location	chr12:45495333-45495334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11182829	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2042102	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2408141	0.86[AFR][1000 genomes]
rs2897857	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3858731	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3990143	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7964644	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7966458	0.81[EUR][1000 genomes]
rs7969381	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7975969	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8181757	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10880739	DBX2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45495200-45496000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:45495200-45496400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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