Variant report

Variant	rs1478506
Chromosome Location	chr16:80111936-80111937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80061308..80063020-chr16:80110372..80112564,2	MCF-7	breast:
2	chr16:80110668..80112262-chr16:80192001..80193923,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10438631	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1115722	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11645922	0.89[EUR][1000 genomes]
rs12716881	0.85[EUR][1000 genomes]
rs12921255	0.89[EUR][1000 genomes]
rs13333795	0.90[EUR][1000 genomes]
rs1478505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2042362	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2199645	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4354957	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4365299	0.88[EUR][1000 genomes]
rs4402582	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4500741	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4500745	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4888067	0.87[EUR][1000 genomes]
rs4889067	0.86[EUR][1000 genomes]
rs4889068	0.89[EUR][1000 genomes]
rs4889084	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4889086	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4889090	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4889092	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889093	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564727	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6564728	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6564729	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564730	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7185080	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7192544	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7192753	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7193465	0.83[EUR][1000 genomes]
rs8050142	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8050160	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8050173	0.84[EUR][1000 genomes]
rs8059251	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9937844	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80108800-80118000	Weak transcription	Fetal Stomach	stomach
2	chr16:80111600-80113400	Enhancers	Fetal Lung	lung
3	chr16:80111800-80117800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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