Variant report

Variant	rs12994293
Chromosome Location	chr2:114754531-114754532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10177100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12996253	0.89[EUR][1000 genomes]
rs13007764	1.00[AFR][1000 genomes]
rs13388080	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34193182	1.00[AFR][1000 genomes]
rs35131331	1.00[AFR][1000 genomes]
rs35821829	1.00[AFR][1000 genomes]
rs62169872	1.00[AFR][1000 genomes]
rs62169884	1.00[AFR][1000 genomes]
rs6717890	0.87[AMR][1000 genomes];1.00[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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	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
rs12994293	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114736200-114761000	Weak transcription	HSMMtube	muscle
2	chr2:114741200-114761000	Weak transcription	HSMM	muscle
3	chr2:114754000-114755200	Enhancers	HepG2	liver
4	chr2:114754400-114755600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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Input of quick search could be:

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

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