Variant report

Variant	rs58040814
Chromosome Location	chr12:45117703-45117704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1597497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1597498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55946231	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56164026	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56226406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56969773	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57060709	1.00[AMR][1000 genomes]
rs57096185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57254647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57396925	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58012395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58963961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59102343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59275409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59613472	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60255313	0.85[AMR][1000 genomes]
rs60407775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61015267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61094573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61443841	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61488065	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278117	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73278118	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73278126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278140	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285405	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285407	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079176	0.98[AFR][1000 genomes];1.00[AMR][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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1049080	chr12:45097564-45195295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45111800-45120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45114800-45117800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:45116400-45122200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45117600-45118000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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