Variant report

Variant	rs1321734
Chromosome Location	chr6:85846563-85846564
allele	A/G
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:32)

rs_ID	r²[population]
rs12213780	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1321723	0.81[ASN][1000 genomes]
rs1321735	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1321736	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1321737	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407159	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407160	0.80[ASN][1000 genomes]
rs1407161	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1407162	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1885017	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1926019	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2146272	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141965	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs486470	0.81[ASN][1000 genomes]
rs505007	0.81[ASN][1000 genomes]
rs510422	0.81[ASN][1000 genomes]
rs536094	0.81[ASN][1000 genomes]
rs562034	0.81[ASN][1000 genomes]
rs563639	0.81[ASN][1000 genomes]
rs618586	0.95[CHB][hapmap]
rs633322	0.81[CHB][hapmap]
rs6454422	0.87[ASN][1000 genomes]
rs6454423	0.90[ASN][1000 genomes]
rs662760	0.82[CHB][hapmap]
rs6911391	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap]
rs6925525	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72624531	0.88[ASN][1000 genomes]
rs7745528	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7748912	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7768040	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9342008	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9362128	0.90[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	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1321734	RNGTT	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85843000-85846800	Enhancers	Osteobl	bone
2	chr6:85844400-85849800	Enhancers	NHDF-Ad	bronchial
3	chr6:85844600-85848200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:85845200-85846800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:85845600-85847600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:85846000-85852000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:85846400-85847400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:85846400-85848400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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