Variant report

Variant	rs12492862
Chromosome Location	chr3:75175069-75175070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10460949	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10460950	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12054432	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12486094	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12493085	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12494321	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12496883	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12636203	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12636209	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13065802	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4076688	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4078307	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4234198	0.90[EUR][1000 genomes]
rs4356853	0.86[ASN][1000 genomes]
rs4361306	0.90[EUR][1000 genomes]
rs4635750	0.86[ASN][1000 genomes]
rs4676991	0.95[EUR][1000 genomes]
rs4676992	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4677447	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4677449	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4677458	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4677473	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4677474	0.96[EUR][1000 genomes]
rs5009222	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57194478	0.96[EUR][1000 genomes]
rs59643911	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59715156	0.96[EUR][1000 genomes]
rs62258901	0.86[ASN][1000 genomes]
rs62260995	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62260996	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62261003	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62261005	0.90[EUR][1000 genomes]
rs62261006	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62261007	0.90[EUR][1000 genomes]
rs62261008	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62261009	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62261010	0.90[EUR][1000 genomes]
rs6549689	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6549700	0.95[EUR][1000 genomes]
rs6775067	0.86[EUR][1000 genomes]
rs6777388	0.97[EUR][1000 genomes]
rs6800028	0.97[EUR][1000 genomes]
rs72628656	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7429585	0.95[EUR][1000 genomes]
rs7429678	0.92[EUR][1000 genomes]
rs7430106	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7431394	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7432426	0.89[EUR][1000 genomes]
rs7648701	0.87[EUR][1000 genomes]
rs7651120	0.90[EUR][1000 genomes]
rs9310311	0.81[ASN][1000 genomes]
rs9810161	0.93[EUR][1000 genomes]
rs9815881	0.82[ASN][1000 genomes]
rs9816018	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9835668	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9845814	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9865292	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9869924	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9877977	0.81[ASN][1000 genomes]
rs9882460	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529994	chr3:74720752-75471887	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv916594	chr3:74943399-75540161	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv1851336	chr3:74970564-75280989	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834736	chr3:75083055-75271458	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv965382	chr3:75163897-75177515	Enhancers Active TSS	n/a	n/a	inside rSNPs	n/a
6	nsv997253	chr3:75168497-76021627	Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75175000-75175400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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