Variant report

Variant	rs294708
Chromosome Location	chr5:152518036-152518037
allele	A/G
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:28)

rs_ID	r²[population]
rs1363499	0.85[EUR][1000 genomes]
rs172452	0.89[EUR][1000 genomes]
rs2579040	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2615160	0.89[EUR][1000 genomes]
rs2615161	0.89[EUR][1000 genomes]
rs2615162	0.89[EUR][1000 genomes]
rs2615163	0.89[EUR][1000 genomes]
rs2910022	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2910024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910026	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2910029	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2910030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs294699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294700	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs294704	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs296188	0.89[EUR][1000 genomes]
rs2962808	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2962809	1.00[ASN][1000 genomes]
rs2962810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2962816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962826	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2973138	0.84[ASN][1000 genomes]
rs2973145	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2973146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973156	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2973157	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6580002	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv883050	chr5:152277537-152540026	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv949596	chr5:152343943-152548821	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152516000-152527600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:152517800-152518200	Enhancers	Fetal Brain Female	brain

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