Variant report

Variant	rs12664068
Chromosome Location	chr6:101362098-101362099
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1854483	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734351	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4098482	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56115902	0.89[ASN][1000 genomes]
rs57454377	0.95[ASN][1000 genomes]
rs57795969	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61289570	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6930051	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72610823	0.84[ASN][1000 genomes]
rs72610824	0.90[ASN][1000 genomes]
rs7748160	0.91[ASN][1000 genomes]
rs9322333	0.85[ASN][1000 genomes]
rs9377246	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9377247	0.94[ASN][1000 genomes]
rs9386260	0.82[ASN][1000 genomes]
rs9386262	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9390697	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9390700	0.86[ASN][1000 genomes]
rs9399696	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9404055	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9404058	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9404063	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9498409	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9498414	0.82[EUR][1000 genomes]
rs9498418	0.82[EUR][1000 genomes]
rs9498439	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9791284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv981366	chr6:101350432-101366644	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12664068	ASCC3	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101361600-101362200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:101361600-101362200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:101361600-101362200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr6:101361600-101362400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:101361800-101362400	Active TSS	K562	blood
6	chr6:101362000-101362200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:101362000-101362400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:101362000-101367600	Weak transcription	Fetal Intestine Small	intestine

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