Variant report

Variant	rs2547521
Chromosome Location	chr5:52467359-52467360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1374057	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs152945	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs194218	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs251332	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254596	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254606	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254607	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254608	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254609	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254611	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254613	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254615	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs254616	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs254626	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2547523	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2652545	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30087	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30089	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30090	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30091	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30092	0.81[ASN][1000 genomes]
rs30095	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30096	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs30097	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34781824	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376850	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs390421	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs402741	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs448453	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7710432	0.95[AMR][1000 genomes];0.92[EUR][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52464000-52469000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:52464000-52474200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:52466000-52467600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:52466200-52467400	Enhancers	HMEC	breast
5	chr5:52466400-52467400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:52466400-52467800	Enhancers	NHEK	skin
7	chr5:52466400-52467800	Enhancers	NHLF	lung
8	chr5:52466400-52470000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:52467000-52467800	Enhancers	NHDF-Ad	bronchial
10	chr5:52467200-52467600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:52467200-52467600	Enhancers	Monocytes-CD14+_RO01746	blood

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