Variant report

Variant	rs57094207
Chromosome Location	chr12:44611746-44611747
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:177)

rs_ID	r²[population]
rs10047523	0.85[EUR][1000 genomes]
rs10506235	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506236	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506237	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506239	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506240	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506242	1.00[ASN][1000 genomes]
rs10880628	0.84[EUR][1000 genomes]
rs1115423	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182431	0.83[EUR][1000 genomes]
rs11182432	0.83[EUR][1000 genomes]
rs11182453	0.86[EUR][1000 genomes]
rs11182455	0.85[EUR][1000 genomes]
rs1155808	0.83[EUR][1000 genomes]
rs11609283	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11609304	1.00[ASN][1000 genomes]
rs11609568	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609727	1.00[ASN][1000 genomes]
rs11610433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610994	1.00[ASN][1000 genomes]
rs11611103	1.00[ASN][1000 genomes]
rs11612076	1.00[ASN][1000 genomes]
rs11612257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612946	0.91[EUR][1000 genomes]
rs11613064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613444	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11613956	1.00[ASN][1000 genomes]
rs11615473	0.85[EUR][1000 genomes]
rs11615732	1.00[ASN][1000 genomes]
rs11830719	0.92[EUR][1000 genomes]
rs11832219	0.85[EUR][1000 genomes]
rs11832828	0.92[EUR][1000 genomes]
rs11835507	0.85[EUR][1000 genomes]
rs12297689	0.81[EUR][1000 genomes]
rs12297754	0.86[EUR][1000 genomes]
rs12299030	0.85[EUR][1000 genomes]
rs12299937	0.87[EUR][1000 genomes]
rs12300793	0.83[EUR][1000 genomes]
rs12307560	0.85[EUR][1000 genomes]
rs12308449	0.81[EUR][1000 genomes]
rs12308508	0.83[EUR][1000 genomes]
rs12308569	0.86[EUR][1000 genomes]
rs12309639	0.85[EUR][1000 genomes]
rs12314470	0.84[EUR][1000 genomes]
rs1527316	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1643429	0.83[EUR][1000 genomes]
rs1643431	0.85[EUR][1000 genomes]
rs17094062	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094121	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094169	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094183	0.81[EUR][1000 genomes]
rs17094226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094228	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17094231	0.92[EUR][1000 genomes]
rs17094235	0.87[EUR][1000 genomes]
rs17094242	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17094260	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094282	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094291	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094292	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094299	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094304	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094313	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094323	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094328	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094330	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094336	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094343	0.89[AFR][1000 genomes]
rs17094356	0.89[AFR][1000 genomes]
rs17121305	0.86[EUR][1000 genomes]
rs2032782	0.85[EUR][1000 genomes]
rs2112147	0.86[EUR][1000 genomes]
rs2407818	1.00[ASN][1000 genomes]
rs28397962	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28838075	0.86[EUR][1000 genomes]
rs34378333	1.00[ASN][1000 genomes]
rs34621645	1.00[ASN][1000 genomes]
rs35156535	1.00[ASN][1000 genomes]
rs35503487	1.00[ASN][1000 genomes]
rs55633842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55645887	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55649839	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55747421	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55782485	0.85[EUR][1000 genomes]
rs55840982	0.89[AFR][1000 genomes]
rs55874183	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55977905	0.85[EUR][1000 genomes]
rs55991202	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55999021	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56134810	0.85[EUR][1000 genomes]
rs56192803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218625	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339470	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57010132	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57851938	0.89[AFR][1000 genomes]
rs57907832	0.87[EUR][1000 genomes]
rs58206004	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58450697	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58602576	0.84[AFR][1000 genomes]
rs59136483	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59152420	0.83[EUR][1000 genomes]
rs59375742	0.81[EUR][1000 genomes]
rs59477802	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59704299	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59957474	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60008417	0.88[EUR][1000 genomes]
rs60461380	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60939199	0.84[AFR][1000 genomes]
rs60995491	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61228557	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61629163	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61690882	0.87[EUR][1000 genomes]
rs6582497	0.82[EUR][1000 genomes]
rs67184817	0.86[EUR][1000 genomes]
rs7137469	0.85[EUR][1000 genomes]
rs7137787	0.92[EUR][1000 genomes]
rs7139362	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295832	0.86[EUR][1000 genomes]
rs7297563	0.81[EUR][1000 genomes]
rs7305296	0.95[AFR][1000 genomes]
rs7305976	0.86[EUR][1000 genomes]
rs7306362	0.93[EUR][1000 genomes]
rs7306647	0.81[EUR][1000 genomes]
rs7308476	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73086766	0.80[AFR][1000 genomes]
rs73093451	0.84[AFR][1000 genomes]
rs73093458	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093474	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093490	0.82[AFR][1000 genomes]
rs73093494	0.84[AFR][1000 genomes]
rs73094803	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73099009	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73099011	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73099027	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100817	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73100825	0.87[EUR][1000 genomes]
rs73100829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100834	0.88[EUR][1000 genomes]
rs73100835	0.95[AFR][1000 genomes]
rs73100838	0.95[AFR][1000 genomes]
rs73100841	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73100848	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73102910	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102919	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102925	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73102927	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73102932	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73102937	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73102938	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73102952	0.89[AFR][1000 genomes]
rs73102953	0.89[AFR][1000 genomes]
rs73102954	0.89[AFR][1000 genomes]
rs7310881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311714	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7311937	0.89[AFR][1000 genomes]
rs7312930	0.83[EUR][1000 genomes]
rs7313269	0.86[EUR][1000 genomes]
rs7313649	0.89[AFR][1000 genomes]
rs7315208	0.83[EUR][1000 genomes]
rs7316737	0.86[EUR][1000 genomes]
rs73274154	1.00[ASN][1000 genomes]
rs73274169	1.00[ASN][1000 genomes]
rs7954216	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961974	0.87[EUR][1000 genomes]
rs7968777	0.85[EUR][1000 genomes]
rs7968824	0.95[AFR][1000 genomes]
rs7976652	0.85[EUR][1000 genomes]
rs860867	0.81[EUR][1000 genomes]
rs9738149	0.89[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44600200-44617000	Weak transcription	Ovary	ovary
2	chr12:44611000-44611800	Enhancers	NHEK	skin
3	chr12:44611000-44612000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44611000-44612000	Enhancers	HMEC	breast
5	chr12:44611600-44613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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