Variant report

Variant	rs34173878
Chromosome Location	chr10:53911615-53911616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:53906856..53908912-chr10:53910434..53911950,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10508968	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11591515	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11592264	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11594206	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12570780	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12774141	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12776375	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12782150	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17562140	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17562565	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17642863	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17643002	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2126759	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34178098	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34261122	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389565	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34447589	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34733197	0.86[EUR][1000 genomes]
rs35222522	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57169351	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71490904	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71490905	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv467198	chr10:53843374-53923411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv550875	chr10:53843374-53923411	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv467199	chr10:53864402-53948854	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	nsv550876	chr10:53864402-53948854	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr10:53881000-53971800	Weak transcription	Aorta	Aorta
2	chr10:53907000-53925000	Weak transcription	Fetal Lung	lung
3	chr10:53909600-53912200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:53911000-53913000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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