Variant report

Variant	rs73102952
Chromosome Location	chr12:44630741-44630742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10506235	0.88[AFR][1000 genomes]
rs10506236	0.88[AFR][1000 genomes]
rs10506239	0.88[AFR][1000 genomes]
rs10506241	0.89[AFR][1000 genomes]
rs11609283	0.89[AFR][1000 genomes]
rs11609568	0.89[AFR][1000 genomes]
rs11610433	0.89[AFR][1000 genomes]
rs11612257	0.89[AFR][1000 genomes]
rs11613064	0.89[AFR][1000 genomes]
rs11613444	0.89[AFR][1000 genomes]
rs1527316	0.92[AFR][1000 genomes]
rs17094121	0.88[AFR][1000 genomes]
rs17094226	0.87[AFR][1000 genomes]
rs17094228	0.89[AFR][1000 genomes]
rs17094242	0.89[AFR][1000 genomes]
rs17094260	0.89[AFR][1000 genomes]
rs17094263	0.89[AFR][1000 genomes]
rs17094282	0.89[AFR][1000 genomes]
rs17094291	0.89[AFR][1000 genomes]
rs17094292	0.89[AFR][1000 genomes]
rs17094298	0.89[AFR][1000 genomes]
rs17094299	0.89[AFR][1000 genomes]
rs17094300	0.89[AFR][1000 genomes]
rs17094304	0.89[AFR][1000 genomes]
rs17094313	0.89[AFR][1000 genomes]
rs17094322	0.92[AFR][1000 genomes]
rs17094323	0.92[AFR][1000 genomes]
rs17094325	0.92[AFR][1000 genomes]
rs17094330	0.92[AFR][1000 genomes]
rs17094336	0.89[AFR][1000 genomes]
rs17094343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397962	0.89[AFR][1000 genomes]
rs55633842	0.92[AFR][1000 genomes]
rs55645887	0.92[AFR][1000 genomes]
rs55747421	0.92[AFR][1000 genomes]
rs55840982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55874183	0.92[AFR][1000 genomes]
rs55991202	0.92[AFR][1000 genomes]
rs55999021	0.89[AFR][1000 genomes]
rs56192803	0.89[AFR][1000 genomes]
rs56218625	0.87[AFR][1000 genomes]
rs56339470	0.82[AFR][1000 genomes]
rs56877775	0.86[EUR][1000 genomes]
rs57094207	0.89[AFR][1000 genomes]
rs57851938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58450697	0.92[AFR][1000 genomes]
rs58602576	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59118688	0.87[EUR][1000 genomes]
rs59136483	0.92[AFR][1000 genomes]
rs59618205	0.81[EUR][1000 genomes]
rs59704299	0.92[AFR][1000 genomes]
rs59957474	0.89[AFR][1000 genomes]
rs60461380	0.92[AFR][1000 genomes]
rs60939199	0.88[AFR][1000 genomes]
rs61228557	0.89[AFR][1000 genomes]
rs61399923	0.85[EUR][1000 genomes]
rs66993609	0.87[EUR][1000 genomes]
rs7305296	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308476	0.89[AFR][1000 genomes]
rs73086766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73093451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73093458	0.88[AFR][1000 genomes]
rs73093470	0.86[EUR][1000 genomes]
rs73093490	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73093494	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73093496	0.86[EUR][1000 genomes]
rs73096886	0.86[EUR][1000 genomes]
rs73099009	0.92[AFR][1000 genomes]
rs73099011	0.92[AFR][1000 genomes]
rs73099012	0.86[EUR][1000 genomes]
rs73099027	0.85[AFR][1000 genomes]
rs73100803	0.85[AFR][1000 genomes]
rs73100817	0.85[AFR][1000 genomes]
rs73100829	0.89[AFR][1000 genomes]
rs73100835	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100838	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100848	0.89[AFR][1000 genomes]
rs73100851	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73102910	0.89[AFR][1000 genomes]
rs73102919	0.89[AFR][1000 genomes]
rs73102924	0.89[AFR][1000 genomes]
rs73102925	0.89[AFR][1000 genomes]
rs73102927	0.89[AFR][1000 genomes]
rs73102932	0.92[AFR][1000 genomes]
rs73102937	0.92[AFR][1000 genomes]
rs73102938	0.92[AFR][1000 genomes]
rs73102953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73102954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102964	0.95[EUR][1000 genomes]
rs7310881	0.89[AFR][1000 genomes]
rs7311714	0.89[AFR][1000 genomes]
rs7311937	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954216	0.85[AFR][1000 genomes]
rs7968824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[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:2 , 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	chr12:44622000-44633800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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