Variant report

Variant	rs2048454
Chromosome Location	chr5:90523669-90523670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2137007	0.84[EUR][1000 genomes]
rs2973460	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs2973468	0.90[CHD][hapmap]
rs4916706	0.90[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs4916707	0.81[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs4916853	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4916854	0.82[EUR][1000 genomes]
rs4916857	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[TSI][hapmap]
rs60578469	0.88[ASN][1000 genomes]
rs6865066	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[TSI][hapmap]
rs6865269	0.85[CHB][hapmap];0.92[TSI][hapmap]
rs73177675	0.82[EUR][1000 genomes]
rs7341005	0.90[CEU][hapmap];0.86[MEX][hapmap]
rs7704529	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[TSI][hapmap]
rs7705128	0.81[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs7712260	1.00[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs7732832	0.85[CHB][hapmap];0.85[TSI][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90515600-90524200	Weak transcription	HMEC	breast
2	chr5:90515600-90524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:90521000-90523800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:90521200-90524400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:90521200-90530400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:90523400-90524200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:90523400-90526200	Weak transcription	Ovary	ovary
8	chr5:90523600-90524000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:90523600-90524600	Enhancers	Hela-S3	cervix
10	chr5:90523600-90525000	Enhancers	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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