Variant report

Variant	rs2657576
Chromosome Location	chr12:44576071-44576072
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10047523	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032886	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506240	0.82[EUR][1000 genomes]
rs10880622	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880623	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880628	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115423	0.87[EUR][1000 genomes]
rs11182417	0.89[ASN][1000 genomes]
rs11182423	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182430	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182431	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182432	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182442	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182453	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11182455	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1155808	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610433	0.81[EUR][1000 genomes]
rs11613902	0.90[EUR][1000 genomes]
rs11615473	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168078	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11830719	0.85[EUR][1000 genomes]
rs11832219	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11832828	0.85[EUR][1000 genomes]
rs11832859	0.93[ASN][1000 genomes]
rs11834667	0.90[EUR][1000 genomes]
rs11835507	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099982	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12297689	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297754	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297933	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12299030	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12299937	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300793	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307454	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307560	0.92[EUR][1000 genomes]
rs12308449	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12308508	0.92[EUR][1000 genomes]
rs12308569	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309639	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12314470	0.87[EUR][1000 genomes]
rs12315961	0.90[EUR][1000 genomes]
rs12319009	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1352935	0.88[EUR][1000 genomes]
rs1643429	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643431	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1701088	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17094062	0.84[EUR][1000 genomes]
rs17094063	0.88[EUR][1000 genomes]
rs17094092	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17094117	0.86[EUR][1000 genomes]
rs17094169	0.85[EUR][1000 genomes]
rs17094183	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094226	0.81[EUR][1000 genomes]
rs17094227	0.98[ASN][1000 genomes]
rs17094228	0.82[EUR][1000 genomes]
rs17094231	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17094235	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094242	0.82[EUR][1000 genomes]
rs17121305	0.84[EUR][1000 genomes]
rs17121310	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2032782	0.92[EUR][1000 genomes]
rs2062954	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2112147	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174508	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2638853	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2638855	0.95[ASN][1000 genomes]
rs2657577	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28538835	0.84[EUR][1000 genomes]
rs28838075	0.91[EUR][1000 genomes]
rs55649839	0.83[EUR][1000 genomes]
rs55782485	0.85[EUR][1000 genomes]
rs55950371	0.86[EUR][1000 genomes]
rs55977905	0.85[EUR][1000 genomes]
rs55999021	0.81[EUR][1000 genomes]
rs56134810	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56339470	0.83[EUR][1000 genomes]
rs57010132	0.84[EUR][1000 genomes]
rs57907832	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58206004	0.84[EUR][1000 genomes]
rs59118688	0.83[ASN][1000 genomes]
rs59152420	0.95[EUR][1000 genomes]
rs59375742	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59477802	0.84[EUR][1000 genomes]
rs59628873	0.90[EUR][1000 genomes]
rs60008417	0.89[EUR][1000 genomes]
rs60995491	0.84[EUR][1000 genomes]
rs61629163	0.87[EUR][1000 genomes]
rs61690882	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582497	0.80[EUR][1000 genomes]
rs6582498	0.88[EUR][1000 genomes]
rs66970043	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67184817	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67713366	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68049983	0.90[EUR][1000 genomes]
rs7137469	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137787	0.85[EUR][1000 genomes]
rs7139362	0.89[EUR][1000 genomes]
rs7295281	0.87[ASN][1000 genomes]
rs7295832	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297563	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305976	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7306362	0.83[EUR][1000 genomes]
rs7306647	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73093474	0.84[EUR][1000 genomes]
rs73094803	0.84[EUR][1000 genomes]
rs73099027	0.82[EUR][1000 genomes]
rs73100803	0.82[EUR][1000 genomes]
rs73100825	0.90[EUR][1000 genomes]
rs73100829	0.83[EUR][1000 genomes]
rs73100834	0.89[EUR][1000 genomes]
rs73100841	0.81[EUR][1000 genomes]
rs7310881	0.82[EUR][1000 genomes]
rs7312930	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313269	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315208	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316737	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288050	0.90[EUR][1000 genomes]
rs7954216	0.82[EUR][1000 genomes]
rs7961974	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967957	0.88[EUR][1000 genomes]
rs7968777	0.85[EUR][1000 genomes]
rs7969885	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971340	0.85[EUR][1000 genomes]
rs7976652	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7977482	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980383	0.90[EUR][1000 genomes]
rs840765	1.00[JPT][hapmap]
rs860867	0.88[EUR][1000 genomes]
rs963095	0.89[EUR][1000 genomes]
rs9738149	0.82[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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44571800-44579200	Weak transcription	Fetal Intestine Large	intestine
3	chr12:44574000-44583400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44574000-44595600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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