Variant report

Variant	rs2645047
Chromosome Location	chr8:86286546-86286547
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:47)

rs_ID	r²[population]
rs10504812	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10907474	0.80[ASN][1000 genomes]
rs11261474	0.82[ASN][1000 genomes]
rs11780285	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12550814	0.82[ASN][1000 genomes]
rs1303806	0.81[ASN][1000 genomes]
rs1303807	0.81[ASN][1000 genomes]
rs13252971	0.83[ASN][1000 genomes]
rs13255540	0.92[ASN][1000 genomes]
rs13273654	0.88[ASN][1000 genomes]
rs1389245	0.93[ASN][1000 genomes]
rs1389247	0.93[ASN][1000 genomes]
rs1390712	0.81[ASN][1000 genomes]
rs1472360	0.96[ASN][1000 genomes]
rs1496526	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1496527	0.91[EUR][1000 genomes]
rs1496529	0.92[ASN][1000 genomes]
rs1496530	0.83[ASN][1000 genomes]
rs1532423	0.88[ASN][1000 genomes]
rs1532424	0.83[ASN][1000 genomes]
rs1995056	0.80[ASN][1000 genomes]
rs2055077	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072696	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2173044	0.83[ASN][1000 genomes]
rs2403105	0.92[ASN][1000 genomes]
rs2453868	0.94[ASN][1000 genomes]
rs2548281	0.96[ASN][1000 genomes]
rs2645049	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2645051	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2645053	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087782	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4740049	0.81[ASN][1000 genomes]
rs55641432	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55929157	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58958691	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66498753	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67824746	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6997458	0.88[ASN][1000 genomes]
rs7000950	0.84[ASN][1000 genomes]
rs7016369	0.80[ASN][1000 genomes]
rs713488	0.93[ASN][1000 genomes]
rs713489	0.93[ASN][1000 genomes]
rs725605	0.83[ASN][1000 genomes]
rs7386162	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7824715	0.83[ASN][1000 genomes]
rs931505	0.92[ASN][1000 genomes]
rs999466	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3480533	chr8:86278274-86291113	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3480534	chr8:86278274-86291113	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2645047	C8orf59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86267400-86288800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:86276000-86287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:86284200-86290200	Weak transcription	K562	blood
4	chr8:86285200-86315400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links