Variant report

Variant	rs11779539
Chromosome Location	chr8:127877000-127877001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10106550	0.96[ASN][1000 genomes]
rs10156279	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10505487	0.94[ASN][1000 genomes]
rs10505488	0.85[ASN][1000 genomes]
rs10505489	0.94[ASN][1000 genomes]
rs10505490	0.88[ASN][1000 genomes]
rs10808552	0.81[EUR][1000 genomes]
rs10956330	0.89[ASN][1000 genomes]
rs10956331	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956332	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956333	0.95[EUR][1000 genomes]
rs11986860	0.97[ASN][1000 genomes]
rs11987858	0.94[ASN][1000 genomes]
rs11989801	0.97[ASN][1000 genomes]
rs11992578	0.95[ASN][1000 genomes]
rs12545906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13248340	0.88[ASN][1000 genomes]
rs13254736	0.85[ASN][1000 genomes]
rs1400462	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400463	0.85[EUR][1000 genomes]
rs16901776	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16901778	0.94[ASN][1000 genomes]
rs16901783	0.96[ASN][1000 genomes]
rs16901785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16901792	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1972123	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1973699	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409662	0.95[ASN][1000 genomes]
rs28617317	0.94[ASN][1000 genomes]
rs2893579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870987	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870989	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870990	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871743	0.82[CEU][hapmap]
rs55814003	0.80[ASN][1000 genomes]
rs6984670	0.90[ASN][1000 genomes]
rs6989445	0.85[EUR][1000 genomes]
rs6993010	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6998093	0.97[ASN][1000 genomes]
rs7816751	0.97[ASN][1000 genomes]
rs7818682	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7818898	0.81[EUR][1000 genomes]
rs7818978	0.81[EUR][1000 genomes]
rs7819209	0.83[EUR][1000 genomes]
rs7825034	1.00[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs7827311	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7828801	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833497	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839993	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841842	0.87[ASN][1000 genomes]
rs902126	0.81[EUR][1000 genomes]
rs975788	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs979963	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979964	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979965	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979966	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs986046	0.86[ASN][1000 genomes]
rs9987182	0.84[ASN][1000 genomes]
rs9987223	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831456	chr8:127861583-128025508	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11779539	POU5F1B	cis	cerebellum	SCAN
rs11779539	FAM49B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127870600-127877400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:127870600-127880400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:127873600-127878400	Weak transcription	Right Atrium	heart
4	chr8:127875200-127877200	Weak transcription	Stomach Mucosa	stomach
5	chr8:127876400-127880400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:127876400-127881200	Weak transcription	NHEK	skin
7	chr8:127876600-127877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:127876600-127886400	Weak transcription	Fetal Muscle Leg	muscle

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