Variant report

Variant	rs1467458
Chromosome Location	chr6:45383078-45383079
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41400879..41402620-chr6:45382949..45384449,2	MCF-7	breast:
2	chr6:45381884..45384461-chr6:45385432..45387065,2	MCF-7	breast:
3	chr6:45346856..45348655-chr6:45382726..45385574,2	K562	blood:
4	chr6:45381712..45384428-chr6:45387465..45389865,2	MCF-7	breast:
5	chr6:45345681..45347197-chr6:45381853..45384436,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000196284	Chromatin interaction
ENSG00000271857	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1321075	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1321076	0.84[ASN][1000 genomes]
rs1321077	1.00[CEU][hapmap]
rs2064629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677104	0.95[ASN][1000 genomes]
rs2819860	0.93[ASN][1000 genomes]

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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1467458	EFCAB2	trans	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45377200-45386400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:45382800-45386800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:45383000-45383200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:45383000-45383200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:45383000-45383200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr6:45383000-45383200	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:45383000-45383200	Enhancers	Fetal Heart	heart
8	chr6:45383000-45383200	ZNF genes & repeats	Lung	lung
9	chr6:45383000-45383400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:45383000-45383400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr6:45383000-45383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:45383000-45383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:45383000-45383400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:45383000-45383400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:45383000-45383400	Flanking Active TSS	Spleen	Spleen
16	chr6:45383000-45383600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:45383000-45383600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:45383000-45383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:45383000-45383600	Flanking Active TSS	Hela-S3	cervix
20	chr6:45383000-45384200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:45383000-45386200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:45383000-45387000	Enhancers	Osteobl	bone

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