Variant report

Variant	rs666839
Chromosome Location	chr11:73346041-73346042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10736793	0.81[JPT][hapmap]
rs10898926	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898927	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10898928	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10898929	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235827	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235834	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11235843	0.90[JPT][hapmap]
rs11235844	0.81[JPT][hapmap]
rs11235864	0.81[JPT][hapmap]
rs11601905	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12361257	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12364069	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12366033	0.81[JPT][hapmap]
rs1568895	0.82[ASN][1000 genomes]
rs1723840	0.81[JPT][hapmap]
rs2140892	0.81[JPT][hapmap]
rs3741147	0.84[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3825003	0.81[JPT][hapmap]
rs4944028	0.81[JPT][hapmap]
rs4944032	0.81[JPT][hapmap]
rs4944847	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944850	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944856	0.84[JPT][hapmap]
rs6590	0.90[JPT][hapmap]
rs6592531	0.81[JPT][hapmap]
rs7128512	0.90[JPT][hapmap]
rs7939193	0.81[JPT][hapmap]
rs7944279	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666549	0.94[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.93[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs666839	PAAF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73344200-73346800	Enhancers	Primary T cells from cord blood	blood
2	chr11:73344400-73346200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr11:73344400-73346400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr11:73344600-73346400	Enhancers	Fetal Thymus	thymus
5	chr11:73345000-73346200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:73345400-73346200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:73346000-73346400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:73346000-73346400	Enhancers	Placenta	Placenta
9	chr11:73346000-73347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:73346000-73351400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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