Variant report

Variant	rs6546792
Chromosome Location	chr2:73091190-73091191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73003057..73004812-chr2:73090975..73092773,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10211019	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1027848	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496186	0.83[AMR][1000 genomes]
rs10865393	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126385	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1150500	0.83[AMR][1000 genomes]
rs1161266	0.83[AMR][1000 genomes]
rs1161267	0.89[AMR][1000 genomes]
rs11894160	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12474728	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622275	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12713775	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12989141	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12996406	0.80[AMR][1000 genomes]
rs13035731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396106	0.83[AMR][1000 genomes]
rs1567230	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2048170	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048171	0.83[AMR][1000 genomes]
rs2135985	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420880	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420881	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420883	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2421095	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4321391	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852298	0.80[AMR][1000 genomes]
rs4852893	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4852902	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546782	0.80[AMR][1000 genomes]
rs6546783	0.83[AMR][1000 genomes]
rs6546786	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546788	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546789	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546790	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730083	0.88[EUR][1000 genomes]
rs6739002	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6750740	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6758431	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758542	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580268	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7586787	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7588602	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7592155	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs925146	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925147	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925148	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6546792	CYP26B1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73090400-73091600	Weak transcription	GM12878-XiMat	blood
2	chr2:73090400-73091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:73090400-73091800	Weak transcription	NHEK	skin
4	chr2:73090400-73092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:73090400-73092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:73090400-73092000	Weak transcription	HMEC	breast
7	chr2:73090400-73092200	Weak transcription	Hela-S3	cervix
8	chr2:73090600-73091800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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