Variant report

Variant	rs57655063
Chromosome Location	chr12:44600130-44600131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11609304	0.86[AFR][1000 genomes]
rs11609727	0.86[AFR][1000 genomes]
rs11612076	0.86[AFR][1000 genomes]
rs57462004	0.83[AFR][1000 genomes]
rs58851540	0.83[AFR][1000 genomes]
rs59594716	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60379168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61628384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7304796	1.00[AMR][1000 genomes]
rs7305049	1.00[AMR][1000 genomes]
rs73272261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272288	0.84[AFR][1000 genomes]
rs73272290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274154	0.86[AFR][1000 genomes]
rs73274169	0.86[AFR][1000 genomes]
rs73288025	0.83[AFR][1000 genomes]
rs73288036	0.83[AFR][1000 genomes]
rs73288072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288073	0.83[AFR][1000 genomes]
rs73288075	0.83[AFR][1000 genomes]
rs73288080	0.83[AFR][1000 genomes]
rs73288089	0.83[AFR][1000 genomes]
rs73288095	0.83[AFR][1000 genomes]
rs73288099	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290203	0.83[AFR][1000 genomes]
rs73290206	0.83[AFR][1000 genomes]
rs73290208	0.83[AFR][1000 genomes]
rs73290213	0.89[AFR][1000 genomes]
rs73290215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290217	0.86[AFR][1000 genomes]
rs73290223	0.89[AFR][1000 genomes]
rs73290224	0.89[AFR][1000 genomes]
rs73290225	0.89[AFR][1000 genomes]
rs73290228	0.89[AFR][1000 genomes]
rs73290230	0.89[AFR][1000 genomes]
rs73290233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290288	1.00[AFR][1000 genomes];1.00[AMR][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:4 , 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	chr12:44599600-44600400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr12:44600000-44600200	ZNF genes & repeats	Ovary	ovary
4	chr12:44600000-44606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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