Variant report

Variant	rs12550814
Chromosome Location	chr8:86293905-86293906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10087278	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10091566	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10095352	0.83[EUR][1000 genomes]
rs10097917	0.88[ASN][1000 genomes]
rs11261474	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985029	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11985733	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544332	0.83[ASN][1000 genomes]
rs13252971	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13273654	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390712	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1472360	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1493302	0.92[ASN][1000 genomes]
rs1496526	0.83[ASN][1000 genomes]
rs1496529	0.80[ASN][1000 genomes]
rs1496531	0.83[ASN][1000 genomes]
rs1496532	0.83[ASN][1000 genomes]
rs1532423	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532424	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1543852	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1908075	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs20571	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2072696	0.80[ASN][1000 genomes]
rs2173044	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2220972	0.81[ASN][1000 genomes]
rs2453868	0.85[EUR][1000 genomes]
rs2645047	0.82[ASN][1000 genomes]
rs2645049	0.83[ASN][1000 genomes]
rs3758076	0.82[EUR][1000 genomes]
rs3758077	0.81[EUR][1000 genomes]
rs4566	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6988475	0.82[EUR][1000 genomes]
rs6997458	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7000950	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs725605	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824715	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9286249	0.81[EUR][1000 genomes]
rs955007	0.83[EUR][1000 genomes]
rs9969643	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9987281	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr8:86285200-86315400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:86291600-86295000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:86292600-86294800	Weak transcription	K562	blood
4	chr8:86293400-86295000	Weak transcription	Liver	Liver

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