Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10506244	1.00[AMR][1000 genomes]
rs17094382	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17094386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17094396	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17094401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094412	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17094421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094423	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094437	1.00[AMR][1000 genomes]
rs1726889	0.83[AMR][1000 genomes]
rs1948424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2080876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3858725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4307772	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4544066	0.84[EUR][1000 genomes]
rs4573751	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276261	1.00[AMR][1000 genomes]
rs74084494	0.83[AMR][1000 genomes]
rs7953537	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7953992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7975491	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv686	chr12:44671240-44696910	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	n/a
4	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44676600-44697800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44681200-44684000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44682000-44698600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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