Variant report

Variant	rs12785742
Chromosome Location	chr21:28893961-28893962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11606295	1.00[AFR][1000 genomes]
rs11606297	1.00[AFR][1000 genomes]
rs12785446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12790868	1.00[AFR][1000 genomes]
rs12794093	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12799908	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12801007	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12801081	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12801253	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12804760	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12806164	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34005000	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34096903	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34298558	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35084032	1.00[EUR][1000 genomes]
rs35244317	1.00[AFR][1000 genomes]
rs35280958	1.00[EUR][1000 genomes]
rs35311118	1.00[AFR][1000 genomes]
rs35378844	1.00[AFR][1000 genomes]
rs35504731	1.00[AFR][1000 genomes]
rs35787307	1.00[AFR][1000 genomes]
rs35908683	1.00[AFR][1000 genomes]
rs36097185	1.00[EUR][1000 genomes]
rs71478183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71478186	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71478187	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71478194	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71478195	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834071	chr21:28806911-28988880	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28892200-28898800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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