Variant report

Variant	rs11000469
Chromosome Location	chr10:53775156-53775157
allele	A/C
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]
rs10823950	0.97[ASN][1000 genomes]
rs10823953	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10823956	0.99[ASN][1000 genomes]
rs10823957	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10823960	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10823961	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10823979	0.81[ASN][1000 genomes]
rs11000454	0.92[ASN][1000 genomes]
rs11000455	0.92[ASN][1000 genomes]
rs11000456	0.95[ASN][1000 genomes]
rs11000458	0.97[ASN][1000 genomes]
rs11000459	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11000462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11000463	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11000466	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11000467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11000470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11000471	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11000496	0.98[ASN][1000 genomes]
rs11000498	0.90[ASN][1000 genomes]
rs11814876	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1903951	0.98[ASN][1000 genomes]
rs1903982	0.97[ASN][1000 genomes]
rs4935024	0.80[ASN][1000 genomes]
rs4935300	0.96[ASN][1000 genomes]
rs61656475	0.98[ASN][1000 genomes]
rs726195	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73341214	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	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	nsv1040754	chr10:53758289-53845925	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv524814	chr10:53771085-53781507	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53771600-53778200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr10:53771800-53778800	Weak transcription	Aorta	Aorta
3	chr10:53774800-53775800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:53774800-53780400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:53775000-53775600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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