Variant report

Variant	rs2470717
Chromosome Location	chr8:95356717-95356718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2256744	0.88[ASN][1000 genomes]
rs2256748	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2445700	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2445703	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2445729	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2445730	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2445731	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2448919	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2470712	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2470714	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2470715	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2470716	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2470728	0.80[AFR][1000 genomes]
rs2515096	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2515118	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2515123	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515124	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2515131	0.91[ASN][1000 genomes]
rs2515133	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2515136	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2515167	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs981616	0.82[AMR][1000 genomes];0.91[ASN][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	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95353800-95359000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:95355800-95365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:95355800-95365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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