Variant report

Variant	rs2458413
Chromosome Location	chr8:105359432-105359433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2458414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2514667	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2669448	0.82[EUR][1000 genomes]
rs2669450	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3808396	0.89[YRI][hapmap]
rs4734780	1.00[YRI][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Paget's disease	21623375	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2458413	EIF3E	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105351800-105361200	Weak transcription	NHDF-Ad	bronchial
2	chr8:105355400-105360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:105356000-105360600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105356200-105364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:105357600-105365000	Weak transcription	Right Atrium	heart
6	chr8:105358200-105362000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:105358800-105360000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:105358800-105364000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:105359400-105359600	Weak transcription	Fetal Lung	lung
10	chr8:105359400-105359800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:105359400-105359800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:105359400-105360400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:105359400-105360800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:105359400-105361600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:105359400-105361800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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