Variant report

Variant	rs4293913
Chromosome Location	chr5:124414284-124414285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10040754	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11241784	0.93[ASN][1000 genomes]
rs11950458	0.83[ASN][1000 genomes]
rs11955202	0.85[ASN][1000 genomes]
rs13188506	0.86[AMR][1000 genomes]
rs28649435	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4075487	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4131047	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4415071	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4451044	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4510579	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4555796	0.96[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835863	0.80[ASN][1000 genomes]
rs4836144	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55888913	0.93[ASN][1000 genomes]
rs55919034	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58908150	0.91[ASN][1000 genomes]
rs59612060	0.87[ASN][1000 genomes]
rs62372843	0.91[ASN][1000 genomes]
rs6595573	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595575	0.83[ASN][1000 genomes]
rs6866873	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6872841	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72787446	0.93[ASN][1000 genomes]
rs72787451	0.82[ASN][1000 genomes]
rs7444307	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7446011	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7700716	0.87[ASN][1000 genomes]
rs7711673	0.87[ASN][1000 genomes]
rs9686683	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1019740	chr5:124394818-124431220	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:124401000-124424200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:124408600-124419200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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