Variant report

Variant	rs2645053
Chromosome Location	chr8:86308052-86308053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10087278	0.82[ASN][1000 genomes]
rs10091566	0.81[ASN][1000 genomes]
rs10504812	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10907474	0.82[ASN][1000 genomes]
rs11780285	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11985029	0.81[ASN][1000 genomes]
rs11985733	0.81[ASN][1000 genomes]
rs13252971	0.80[ASN][1000 genomes]
rs13255540	0.96[ASN][1000 genomes]
rs13273654	0.84[ASN][1000 genomes]
rs1389245	0.97[ASN][1000 genomes]
rs1389247	0.97[ASN][1000 genomes]
rs1390712	0.83[ASN][1000 genomes]
rs1472360	0.98[ASN][1000 genomes]
rs1493302	0.81[ASN][1000 genomes]
rs1496526	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1496527	0.89[EUR][1000 genomes]
rs1496529	0.90[ASN][1000 genomes]
rs1496530	0.81[ASN][1000 genomes]
rs1532423	0.84[ASN][1000 genomes]
rs1532424	0.80[ASN][1000 genomes]
rs1543852	0.81[ASN][1000 genomes]
rs2055077	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs20571	0.81[ASN][1000 genomes]
rs2072696	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2403105	0.96[ASN][1000 genomes]
rs2453868	0.97[ASN][1000 genomes]
rs2548281	0.99[ASN][1000 genomes]
rs2645047	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2645049	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645051	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3087782	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758078	0.81[ASN][1000 genomes]
rs55641432	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55929157	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58958691	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66498753	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67824746	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6997458	0.84[ASN][1000 genomes]
rs7000950	0.88[ASN][1000 genomes]
rs7016369	0.82[ASN][1000 genomes]
rs713488	0.97[ASN][1000 genomes]
rs713489	0.97[ASN][1000 genomes]
rs725605	0.80[ASN][1000 genomes]
rs7386162	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7824715	0.80[ASN][1000 genomes]
rs931505	0.96[ASN][1000 genomes]
rs9987281	0.81[ASN][1000 genomes]
rs999466	0.82[AMR][1000 genomes];0.88[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2645053	C8orf59	Cis_1M	lymphoblastoid	RTeQTL

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	chr8:86303000-86308600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:86307200-86308200	Weak transcription	Liver	Liver
4	chr8:86308000-86309800	Weak transcription	Brain Germinal Matrix	brain

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