Variant report

Variant	rs55649839
Chromosome Location	chr12:44577870-44577871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:192)

rs_ID	r²[population]
rs10047523	0.84[EUR][1000 genomes]
rs1032886	0.82[EUR][1000 genomes]
rs10506235	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506236	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506237	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506239	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506240	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506241	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506242	1.00[ASN][1000 genomes]
rs10880622	0.82[EUR][1000 genomes]
rs10880623	0.82[EUR][1000 genomes]
rs10880628	0.83[EUR][1000 genomes]
rs1115423	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182423	0.82[EUR][1000 genomes]
rs11182430	0.83[EUR][1000 genomes]
rs11182431	0.86[EUR][1000 genomes]
rs11182432	0.86[EUR][1000 genomes]
rs11182453	0.85[EUR][1000 genomes]
rs11182455	0.84[EUR][1000 genomes]
rs1155808	0.86[EUR][1000 genomes]
rs11609283	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609304	1.00[ASN][1000 genomes]
rs11609568	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11609727	1.00[ASN][1000 genomes]
rs11610433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612946	0.95[EUR][1000 genomes]
rs11613064	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613444	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11613902	0.82[EUR][1000 genomes]
rs11613956	1.00[ASN][1000 genomes]
rs11615473	0.84[EUR][1000 genomes]
rs11615732	1.00[ASN][1000 genomes]
rs1168078	0.82[EUR][1000 genomes]
rs11830719	0.99[EUR][1000 genomes]
rs11832219	0.84[EUR][1000 genomes]
rs11832828	0.99[EUR][1000 genomes]
rs11834667	0.82[EUR][1000 genomes]
rs11835507	0.84[EUR][1000 genomes]
rs12099982	0.82[EUR][1000 genomes]
rs12297689	0.88[EUR][1000 genomes]
rs12297754	0.92[EUR][1000 genomes]
rs12297933	0.82[EUR][1000 genomes]
rs12299030	0.84[EUR][1000 genomes]
rs12299937	0.86[EUR][1000 genomes]
rs12300793	0.86[EUR][1000 genomes]
rs12307454	0.82[EUR][1000 genomes]
rs12307560	0.84[EUR][1000 genomes]
rs12308449	0.88[EUR][1000 genomes]
rs12308508	0.86[EUR][1000 genomes]
rs12308569	0.92[EUR][1000 genomes]
rs12309639	0.84[EUR][1000 genomes]
rs12314470	0.83[EUR][1000 genomes]
rs12315961	0.82[EUR][1000 genomes]
rs12319009	0.82[EUR][1000 genomes]
rs1352935	0.82[EUR][1000 genomes]
rs1527316	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1643429	0.86[EUR][1000 genomes]
rs1643431	0.84[EUR][1000 genomes]
rs17094062	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094063	0.82[EUR][1000 genomes]
rs17094092	0.82[EUR][1000 genomes]
rs17094121	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094169	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094183	0.88[EUR][1000 genomes]
rs17094226	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094228	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17094231	0.96[EUR][1000 genomes]
rs17094235	0.91[EUR][1000 genomes]
rs17094242	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17094260	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094263	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094282	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17094291	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094292	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094298	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094299	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094300	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094304	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094313	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094322	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094323	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094325	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094328	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094330	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094336	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17121305	0.90[EUR][1000 genomes]
rs2032782	0.84[EUR][1000 genomes]
rs2062954	0.82[EUR][1000 genomes]
rs2112147	0.92[EUR][1000 genomes]
rs2174508	0.82[EUR][1000 genomes]
rs2407818	1.00[ASN][1000 genomes]
rs2638853	0.82[EUR][1000 genomes]
rs2657576	0.83[EUR][1000 genomes]
rs28397962	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28538835	0.83[EUR][1000 genomes]
rs28838075	0.92[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55645887	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55747421	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55782485	0.88[EUR][1000 genomes]
rs55874183	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55977905	0.88[EUR][1000 genomes]
rs55991202	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55999021	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56134810	0.83[EUR][1000 genomes]
rs56192803	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218625	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339470	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57010132	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57094207	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57907832	0.91[EUR][1000 genomes]
rs58206004	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58450697	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59136483	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59152420	0.89[EUR][1000 genomes]
rs59375742	0.88[EUR][1000 genomes]
rs59477802	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59628873	0.82[EUR][1000 genomes]
rs59704299	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59957474	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60008417	0.92[EUR][1000 genomes]
rs60461380	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60995491	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61228557	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61629163	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61690882	0.91[EUR][1000 genomes]
rs6582497	0.86[EUR][1000 genomes]
rs66970043	0.82[EUR][1000 genomes]
rs67184817	0.92[EUR][1000 genomes]
rs67713366	0.82[EUR][1000 genomes]
rs68049983	0.82[EUR][1000 genomes]
rs7137469	0.84[EUR][1000 genomes]
rs7137787	0.99[EUR][1000 genomes]
rs7139362	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295832	0.92[EUR][1000 genomes]
rs7297563	0.88[EUR][1000 genomes]
rs7305296	0.84[AFR][1000 genomes]
rs7305976	0.85[EUR][1000 genomes]
rs7306362	0.97[EUR][1000 genomes]
rs7306647	0.88[EUR][1000 genomes]
rs7308476	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73093458	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093474	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094803	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73099009	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73099011	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73099027	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100803	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100817	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73100825	0.93[EUR][1000 genomes]
rs73100829	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100834	0.92[EUR][1000 genomes]
rs73100835	0.84[AFR][1000 genomes]
rs73100838	0.84[AFR][1000 genomes]
rs73100841	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73100848	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102910	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73102919	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102924	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102925	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102927	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102932	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102937	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73102938	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7310881	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311714	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7312930	0.86[EUR][1000 genomes]
rs7313269	0.92[EUR][1000 genomes]
rs7315208	0.86[EUR][1000 genomes]
rs7316737	0.92[EUR][1000 genomes]
rs73274154	1.00[ASN][1000 genomes]
rs73274169	1.00[ASN][1000 genomes]
rs73288050	0.82[EUR][1000 genomes]
rs7954216	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961974	0.91[EUR][1000 genomes]
rs7967957	0.82[EUR][1000 genomes]
rs7968777	0.88[EUR][1000 genomes]
rs7968824	0.84[AFR][1000 genomes]
rs7969885	0.82[EUR][1000 genomes]
rs7976652	0.84[EUR][1000 genomes]
rs7977482	0.82[EUR][1000 genomes]
rs7980383	0.82[EUR][1000 genomes]
rs963095	0.83[EUR][1000 genomes]
rs9738149	0.96[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	chr12:44511400-44605800	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
5	chr12:44577200-44578000	Enhancers	GM12878-XiMat	blood

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