Variant report

Variant	rs72711290
Chromosome Location	chr15:45824878-45824879
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	chr15:45823254..45826139-chr15:45827745..45829511,2	K562	blood:

Variant related genes	Relation type
ENSG00000207516	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1153830	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1153831	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1153832	0.85[ASN][1000 genomes]
rs16944629	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1768458	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2088164	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2433600	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2433617	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2433619	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35828336	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4448883	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55997350	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56179992	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56405528	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59574269	0.91[EUR][1000 genomes]
rs60350201	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60992352	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61193305	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493154	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6493157	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493158	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6493160	0.94[EUR][1000 genomes]
rs7165838	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7169748	0.94[EUR][1000 genomes]
rs7171406	0.94[EUR][1000 genomes]
rs7173983	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72711264	0.93[ASN][1000 genomes]
rs72711278	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711279	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711280	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711283	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711284	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711294	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72711301	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72713103	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72713104	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72713105	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8023437	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8025407	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8029509	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8040466	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8042811	0.95[EUR][1000 genomes];0.84[ASN][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	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1045556	chr15:45777396-45884854	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45815600-45825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:45824400-45826800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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