Variant report

Variant	rs4277712
Chromosome Location	chr3:150239030-150239031
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6777126	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8180104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9289815	0.85[EUR][1000 genomes]
rs9289816	0.85[EUR][1000 genomes]
rs9836058	0.89[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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4277712	EIF2A	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150235400-150256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:150238400-150240000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:150238600-150239600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:150239000-150239200	Enhancers	A549	lung
5	chr3:150239000-150239600	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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