Variant report

Variant	rs4681623
Chromosome Location	chr3:150205466-150205467
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1562788	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16862607	1.00[CHB][hapmap]
rs2060662	1.00[CHB][hapmap]
rs2868429	1.00[JPT][hapmap]
rs4533673	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553993	0.85[AFR][1000 genomes]
rs62271371	1.00[ASN][1000 genomes]
rs6414376	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6767155	1.00[CHB][hapmap]
rs73162478	1.00[ASN][1000 genomes]
rs7617699	1.00[CHB][hapmap]
rs7636643	1.00[CHB][hapmap]
rs9830228	1.00[JPT][hapmap]
rs9836480	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9862778	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
rs4681623	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150188200-150218800	Weak transcription	HSMM	muscle
2	chr3:150199000-150212400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:150204800-150205800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search:

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

what's new

Quick links