Variant report

Variant	rs2174508
Chromosome Location	chr12:44528080-44528081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs10047523	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1032886	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506235	0.87[EUR][1000 genomes]
rs10506236	0.87[EUR][1000 genomes]
rs10506237	0.88[EUR][1000 genomes]
rs10506239	0.87[EUR][1000 genomes]
rs10506240	0.83[EUR][1000 genomes]
rs10506241	0.81[EUR][1000 genomes]
rs10880622	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880623	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880628	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1115423	0.88[EUR][1000 genomes]
rs11182417	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182423	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182430	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182431	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182432	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182442	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182453	0.92[EUR][1000 genomes]
rs11182455	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1155808	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11609283	0.81[EUR][1000 genomes]
rs11612257	0.81[EUR][1000 genomes]
rs11612946	0.87[EUR][1000 genomes]
rs11613444	0.81[EUR][1000 genomes]
rs11613902	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11615473	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168078	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830719	0.83[EUR][1000 genomes]
rs11832219	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11832828	0.83[EUR][1000 genomes]
rs11832859	0.98[ASN][1000 genomes]
rs11834667	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835507	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12099982	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12297689	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12297754	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12297933	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12299030	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12299937	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12300793	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307454	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307560	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12308449	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12308508	0.95[EUR][1000 genomes]
rs12308569	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12309639	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12314470	0.88[EUR][1000 genomes]
rs12315961	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319009	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1352935	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1527316	0.81[EUR][1000 genomes]
rs1643429	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1643431	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1701088	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094062	0.92[EUR][1000 genomes]
rs17094063	0.98[EUR][1000 genomes]
rs17094092	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094117	0.96[EUR][1000 genomes]
rs17094121	0.87[EUR][1000 genomes]
rs17094169	0.90[EUR][1000 genomes]
rs17094183	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17094226	0.82[EUR][1000 genomes]
rs17094227	0.93[ASN][1000 genomes]
rs17094228	0.83[EUR][1000 genomes]
rs17094231	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17094235	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17094242	0.83[EUR][1000 genomes]
rs17094260	0.81[EUR][1000 genomes]
rs17094263	0.81[EUR][1000 genomes]
rs17094291	0.81[EUR][1000 genomes]
rs17094292	0.81[EUR][1000 genomes]
rs17094298	0.81[EUR][1000 genomes]
rs17094299	0.81[EUR][1000 genomes]
rs17094300	0.81[EUR][1000 genomes]
rs17094304	0.81[EUR][1000 genomes]
rs17094313	0.81[EUR][1000 genomes]
rs17094322	0.81[EUR][1000 genomes]
rs17094323	0.81[EUR][1000 genomes]
rs17094325	0.81[EUR][1000 genomes]
rs17094328	0.81[EUR][1000 genomes]
rs17094330	0.81[EUR][1000 genomes]
rs17094336	0.81[EUR][1000 genomes]
rs17121305	0.92[EUR][1000 genomes]
rs17121310	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2032782	0.93[EUR][1000 genomes]
rs2062954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112147	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2638853	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2638855	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2657576	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2657577	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28397962	0.81[EUR][1000 genomes]
rs28538835	0.94[EUR][1000 genomes]
rs28838075	0.89[EUR][1000 genomes]
rs55633842	0.81[EUR][1000 genomes]
rs55645887	0.81[EUR][1000 genomes]
rs55649839	0.82[EUR][1000 genomes]
rs55747421	0.81[EUR][1000 genomes]
rs55782485	0.93[EUR][1000 genomes]
rs55950371	0.92[EUR][1000 genomes]
rs55977905	0.93[EUR][1000 genomes]
rs55991202	0.81[EUR][1000 genomes]
rs55999021	0.87[EUR][1000 genomes]
rs56134810	0.90[EUR][1000 genomes]
rs56192803	0.81[EUR][1000 genomes]
rs56218625	0.87[EUR][1000 genomes]
rs56339470	0.82[EUR][1000 genomes]
rs57010132	0.92[EUR][1000 genomes]
rs57907832	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58206004	0.92[EUR][1000 genomes]
rs59136483	0.81[EUR][1000 genomes]
rs59152420	0.93[EUR][1000 genomes]
rs59375742	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59477802	0.92[EUR][1000 genomes]
rs59628873	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59957474	0.81[EUR][1000 genomes]
rs60008417	0.89[EUR][1000 genomes]
rs60461380	0.81[EUR][1000 genomes]
rs60995491	0.92[EUR][1000 genomes]
rs61228557	0.81[EUR][1000 genomes]
rs61629163	0.88[EUR][1000 genomes]
rs61690882	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6582497	0.88[EUR][1000 genomes]
rs6582498	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66970043	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67184817	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67713366	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68049983	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137469	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7137787	0.83[EUR][1000 genomes]
rs7139362	0.87[EUR][1000 genomes]
rs7295281	0.82[ASN][1000 genomes]
rs7295832	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7297563	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7305976	0.92[EUR][1000 genomes]
rs7306362	0.84[EUR][1000 genomes]
rs7306647	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7308476	0.81[EUR][1000 genomes]
rs73093458	0.87[EUR][1000 genomes]
rs73093474	0.92[EUR][1000 genomes]
rs73094803	0.92[EUR][1000 genomes]
rs73099009	0.86[EUR][1000 genomes]
rs73099011	0.86[EUR][1000 genomes]
rs73099027	0.83[EUR][1000 genomes]
rs73100803	0.83[EUR][1000 genomes]
rs73100825	0.88[EUR][1000 genomes]
rs73100829	0.82[EUR][1000 genomes]
rs73100834	0.89[EUR][1000 genomes]
rs73100841	0.82[EUR][1000 genomes]
rs73100848	0.81[EUR][1000 genomes]
rs73102919	0.81[EUR][1000 genomes]
rs73102924	0.81[EUR][1000 genomes]
rs73102925	0.81[EUR][1000 genomes]
rs73102927	0.81[EUR][1000 genomes]
rs73102932	0.81[EUR][1000 genomes]
rs73102938	0.81[EUR][1000 genomes]
rs7310881	0.83[EUR][1000 genomes]
rs7311714	0.81[EUR][1000 genomes]
rs7312930	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313269	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7315208	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7316737	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73288050	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954216	0.83[EUR][1000 genomes]
rs7961974	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7967957	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7968777	0.93[EUR][1000 genomes]
rs7969885	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971340	0.95[EUR][1000 genomes]
rs7976652	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7977482	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980383	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs860867	0.88[EUR][1000 genomes]
rs963095	0.99[EUR][1000 genomes]
rs9738149	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44510800-44531400	Weak transcription	Psoas Muscle	Psoas
2	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44522000-44534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44522400-44545200	Weak transcription	HSMMtube	muscle
5	chr12:44528000-44528200	Enhancers	Left Ventricle	heart

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