Variant report

Variant	rs1973699
Chromosome Location	chr8:127875777-127875778
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

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]
rs10956330	0.89[ASN][1000 genomes]
rs10956331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956332	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956333	0.93[EUR][1000 genomes]
rs11779539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400463	0.84[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	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1972123	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28409662	0.95[ASN][1000 genomes]
rs28617317	0.94[ASN][1000 genomes]
rs2893579	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870987	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870989	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870990	0.99[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	0.84[EUR][1000 genomes]
rs6993010	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6998093	0.97[ASN][1000 genomes]
rs7816751	0.97[ASN][1000 genomes]
rs7818682	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7819209	0.82[EUR][1000 genomes]
rs7825034	0.87[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs7827311	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7828801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833497	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839993	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841842	0.87[ASN][1000 genomes]
rs975788	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs979963	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979964	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979965	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979966	0.99[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
rs1973699	FAM49B	cis	parietal	SCAN
rs1973699	POU5F1B	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127870600-127876000	Weak transcription	NHEK	skin
2	chr8:127870600-127877400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:127870600-127880400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:127873600-127878400	Weak transcription	Right Atrium	heart
5	chr8:127875000-127876400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:127875200-127877200	Weak transcription	Stomach Mucosa	stomach
7	chr8:127875400-127876200	Enhancers	Skeletal Muscle Female	skeletal muscle

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