Variant report

Variant	rs55991202
Chromosome Location	chr12:44620670-44620671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:212)

rs_ID	r²[population]
rs10047523	0.87[EUR][1000 genomes]
rs1032886	0.81[EUR][1000 genomes]
rs10506235	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10506236	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10506237	0.84[EUR][1000 genomes]
rs10506239	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10506240	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10506241	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10880622	0.81[EUR][1000 genomes]
rs10880623	0.81[EUR][1000 genomes]
rs10880628	0.86[EUR][1000 genomes]
rs1115423	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11182423	0.81[EUR][1000 genomes]
rs11182431	0.85[EUR][1000 genomes]
rs11182432	0.85[EUR][1000 genomes]
rs11182453	0.89[EUR][1000 genomes]
rs11182455	0.87[EUR][1000 genomes]
rs1155808	0.85[EUR][1000 genomes]
rs11609283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610433	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11612257	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11612946	0.93[EUR][1000 genomes]
rs11613064	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11613444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613902	0.81[EUR][1000 genomes]
rs11615473	0.87[EUR][1000 genomes]
rs1168078	0.81[EUR][1000 genomes]
rs11830719	0.95[EUR][1000 genomes]
rs11832219	0.87[EUR][1000 genomes]
rs11832828	0.95[EUR][1000 genomes]
rs11834667	0.81[EUR][1000 genomes]
rs11835507	0.87[EUR][1000 genomes]
rs12099982	0.81[EUR][1000 genomes]
rs12297689	0.84[EUR][1000 genomes]
rs12297754	0.88[EUR][1000 genomes]
rs12297933	0.81[EUR][1000 genomes]
rs12299030	0.87[EUR][1000 genomes]
rs12299937	0.90[EUR][1000 genomes]
rs12300793	0.85[EUR][1000 genomes]
rs12307454	0.81[EUR][1000 genomes]
rs12307560	0.87[EUR][1000 genomes]
rs12308449	0.84[EUR][1000 genomes]
rs12308508	0.85[EUR][1000 genomes]
rs12308569	0.88[EUR][1000 genomes]
rs12309639	0.87[EUR][1000 genomes]
rs12314470	0.87[EUR][1000 genomes]
rs12315961	0.81[EUR][1000 genomes]
rs12319009	0.81[EUR][1000 genomes]
rs1352935	0.81[EUR][1000 genomes]
rs1492887	0.93[ASN][1000 genomes]
rs1527316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527317	0.93[ASN][1000 genomes]
rs1643429	0.85[EUR][1000 genomes]
rs1643431	0.87[EUR][1000 genomes]
rs17094062	0.88[EUR][1000 genomes]
rs17094063	0.81[EUR][1000 genomes]
rs17094092	0.81[EUR][1000 genomes]
rs17094121	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17094127	0.93[ASN][1000 genomes]
rs17094138	0.93[ASN][1000 genomes]
rs17094142	0.93[ASN][1000 genomes]
rs17094168	0.93[ASN][1000 genomes]
rs17094169	0.87[EUR][1000 genomes]
rs17094173	0.93[ASN][1000 genomes]
rs17094183	0.84[EUR][1000 genomes]
rs17094226	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094231	0.95[EUR][1000 genomes]
rs17094235	0.90[EUR][1000 genomes]
rs17094238	0.93[ASN][1000 genomes]
rs17094242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17094244	0.93[ASN][1000 genomes]
rs17094257	0.93[ASN][1000 genomes]
rs17094260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094263	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094264	0.93[ASN][1000 genomes]
rs17094272	0.93[ASN][1000 genomes]
rs17094276	0.93[ASN][1000 genomes]
rs17094278	0.93[ASN][1000 genomes]
rs17094282	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094298	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094300	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094306	0.93[ASN][1000 genomes]
rs17094313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094322	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094323	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094325	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094328	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094333	0.93[ASN][1000 genomes]
rs17094336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094338	0.93[ASN][1000 genomes]
rs17094341	0.93[ASN][1000 genomes]
rs17094343	0.92[AFR][1000 genomes]
rs17094351	0.93[ASN][1000 genomes]
rs17094356	0.92[AFR][1000 genomes]
rs17094358	0.93[ASN][1000 genomes]
rs17094374	0.93[ASN][1000 genomes]
rs17121305	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2012087	0.93[ASN][1000 genomes]
rs2032782	0.87[EUR][1000 genomes]
rs2062954	0.81[EUR][1000 genomes]
rs2112147	0.88[EUR][1000 genomes]
rs2174508	0.81[EUR][1000 genomes]
rs2638853	0.81[EUR][1000 genomes]
rs28397962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538835	0.82[EUR][1000 genomes]
rs28838075	0.88[EUR][1000 genomes]
rs55633842	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55645887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649839	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55747421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782485	0.87[EUR][1000 genomes]
rs55840982	0.92[AFR][1000 genomes]
rs55874183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55977905	0.87[EUR][1000 genomes]
rs55999021	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56134810	0.87[EUR][1000 genomes]
rs56192803	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56218625	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56339470	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57010132	0.88[EUR][1000 genomes]
rs57094207	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57851938	0.92[AFR][1000 genomes]
rs57907832	0.90[EUR][1000 genomes]
rs58206004	0.88[EUR][1000 genomes]
rs58450697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58602576	0.81[AFR][1000 genomes]
rs59136483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59152420	0.85[EUR][1000 genomes]
rs59375742	0.84[EUR][1000 genomes]
rs59477802	0.88[EUR][1000 genomes]
rs59628873	0.81[EUR][1000 genomes]
rs59704299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59957474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60008417	0.91[EUR][1000 genomes]
rs60461380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60939199	0.81[AFR][1000 genomes]
rs60995491	0.88[EUR][1000 genomes]
rs61228557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61629163	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61690882	0.90[EUR][1000 genomes]
rs6582497	0.84[EUR][1000 genomes]
rs66970043	0.81[EUR][1000 genomes]
rs67184817	0.88[EUR][1000 genomes]
rs67713366	0.81[EUR][1000 genomes]
rs68049983	0.81[EUR][1000 genomes]
rs7137469	0.87[EUR][1000 genomes]
rs7137787	0.95[EUR][1000 genomes]
rs7139362	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7295832	0.88[EUR][1000 genomes]
rs7297563	0.84[EUR][1000 genomes]
rs7305296	0.92[AFR][1000 genomes]
rs7305976	0.89[EUR][1000 genomes]
rs7306362	0.96[EUR][1000 genomes]
rs7306647	0.84[EUR][1000 genomes]
rs7308476	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086766	0.83[AFR][1000 genomes]
rs73093451	0.81[AFR][1000 genomes]
rs73093458	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73093474	0.88[EUR][1000 genomes]
rs73093494	0.81[AFR][1000 genomes]
rs73094803	0.88[EUR][1000 genomes]
rs73099009	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73099011	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73099027	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73100803	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73100817	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100825	0.90[EUR][1000 genomes]
rs73100829	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73100834	0.91[EUR][1000 genomes]
rs73100835	0.92[AFR][1000 genomes]
rs73100838	0.92[AFR][1000 genomes]
rs73100841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73102910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102919	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102924	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102952	0.92[AFR][1000 genomes]
rs73102953	0.92[AFR][1000 genomes]
rs73102954	0.92[AFR][1000 genomes]
rs7310881	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7311714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311937	0.85[AFR][1000 genomes]
rs7312930	0.85[EUR][1000 genomes]
rs7313269	0.88[EUR][1000 genomes]
rs7313649	0.92[AFR][1000 genomes]
rs7315208	0.85[EUR][1000 genomes]
rs7316737	0.88[EUR][1000 genomes]
rs73288050	0.81[EUR][1000 genomes]
rs7954216	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7961974	0.90[EUR][1000 genomes]
rs7967957	0.81[EUR][1000 genomes]
rs7968777	0.87[EUR][1000 genomes]
rs7968824	0.92[AFR][1000 genomes]
rs7969885	0.81[EUR][1000 genomes]
rs7976652	0.87[EUR][1000 genomes]
rs7977482	0.81[EUR][1000 genomes]
rs7980383	0.81[EUR][1000 genomes]
rs860867	0.83[EUR][1000 genomes]
rs963095	0.82[EUR][1000 genomes]
rs9738149	0.92[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44612000-44655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44617800-44620800	Enhancers	Fetal Brain Female	brain
3	chr12:44618800-44620800	Weak transcription	Psoas Muscle	Psoas
4	chr12:44620000-44621000	Weak transcription	Fetal Brain Male	brain
5	chr12:44620400-44621200	Enhancers	Left Ventricle	heart
6	chr12:44620600-44622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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