Variant report

Variant	rs2254891
Chromosome Location	chr8:11341129-11341130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13256690	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277113	0.83[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1478895	0.84[ASW][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1478900	0.92[ASW][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1478901	0.83[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1531577	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564267	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2061831	0.80[ASN][1000 genomes]
rs2244234	0.83[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2250412	0.88[CHB][hapmap];0.84[YRI][hapmap];0.87[ASN][1000 genomes]
rs2250788	0.88[ASN][1000 genomes]
rs2251056	0.88[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2254546	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2254660	0.88[ASN][1000 genomes]
rs2618476	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2618478	0.94[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs2618479	0.94[CHB][hapmap];0.80[JPT][hapmap];0.88[LWK][hapmap];0.87[ASN][1000 genomes]
rs2618480	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2618481	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs2736332	0.81[ASN][1000 genomes]
rs2736335	0.97[ASN][1000 genomes]
rs2736336	0.82[ASN][1000 genomes]
rs2736337	0.83[ASN][1000 genomes]
rs2736338	0.82[ASN][1000 genomes]
rs2736343	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2736344	0.89[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2736345	0.82[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs35393613	0.92[ASN][1000 genomes]
rs4840565	0.87[ASN][1000 genomes]
rs4840568	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs62489069	0.92[ASN][1000 genomes]
rs7812879	0.95[ASN][1000 genomes]
rs922483	0.88[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs9693589	0.80[ASN][1000 genomes]
rs9694294	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.88[ASN][1000 genomes]
rs998682	0.89[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs998683	0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2254891	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11336200-11343200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:11337800-11341600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:11338200-11350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:11338800-11343800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:11341000-11341200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:11341000-11342200	Enhancers	Primary B cells from cord blood	blood
8	chr8:11341000-11342200	Flanking Active TSS	GM12878-XiMat	blood

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