Variant report

Variant	rs597788
Chromosome Location	chr11:108256859-108256860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10789659	0.82[JPT][hapmap]
rs10890834	0.82[JPT][hapmap]
rs11212592	0.86[JPT][hapmap]
rs11212617	0.89[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs11212672	1.00[ASW][hapmap];0.84[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs113995	0.82[JPT][hapmap]
rs1150201	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12226046	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1583598	0.82[JPT][hapmap]
rs170548	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs172896	0.82[JPT][hapmap]
rs172927	0.89[JPT][hapmap]
rs179110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186593	0.81[JPT][hapmap]
rs186595	0.82[JPT][hapmap]
rs227040	0.82[JPT][hapmap]
rs227041	0.82[JPT][hapmap]
rs227055	0.82[JPT][hapmap]
rs227058	0.82[JPT][hapmap]
rs227060	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227061	0.82[JPT][hapmap]
rs227062	0.82[JPT][hapmap]
rs227064	0.82[JPT][hapmap]
rs227068	0.82[JPT][hapmap]
rs227069	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs227070	0.82[JPT][hapmap]
rs227072	0.82[JPT][hapmap]
rs227073	0.82[JPT][hapmap]
rs227074	0.82[JPT][hapmap]
rs227075	0.82[JPT][hapmap]
rs227077	0.82[JPT][hapmap]
rs227087	0.82[JPT][hapmap]
rs227092	0.82[JPT][hapmap]
rs228590	0.82[JPT][hapmap]
rs228591	0.85[JPT][hapmap]
rs228592	0.82[JPT][hapmap]
rs228593	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs228599	0.82[JPT][hapmap]
rs228606	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2356801	0.89[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs373759	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs374443	0.82[JPT][hapmap]
rs419716	0.82[JPT][hapmap]
rs425538	0.82[JPT][hapmap]
rs4615991	0.87[CEU][hapmap]
rs4753833	0.82[JPT][hapmap]
rs5023001	0.82[JPT][hapmap]
rs590972	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595747	0.82[JPT][hapmap]
rs599164	0.82[JPT][hapmap]
rs599406	0.82[JPT][hapmap]
rs599558	0.82[JPT][hapmap]
rs600931	0.82[JPT][hapmap]
rs609655	0.82[JPT][hapmap]
rs611646	1.00[JPT][hapmap]
rs61915106	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs620613	0.82[JPT][hapmap]
rs627418	0.81[JPT][hapmap]
rs641605	0.82[JPT][hapmap]
rs652311	0.82[JPT][hapmap]
rs652541	0.82[JPT][hapmap]
rs662218	0.82[JPT][hapmap]
rs662578	0.82[JPT][hapmap]
rs664143	0.82[JPT][hapmap]
rs665293	0.83[AFR][1000 genomes]
rs672655	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs673281	0.82[JPT][hapmap]
rs694376	0.82[JPT][hapmap]
rs7931930	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs7943063	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs9667658	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv16145	chr11:108256476-108267672	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv556433	chr11:108256837-108265876	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv556434	chr11:108256837-108266855	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv556435	chr11:108256859-108266855	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs597788	ACAT1	cis	Skin Sun Exposed Lower leg	GTEx
rs597788	NPAT	cis	cerebellum	SCAN
rs597788	RGS21	trans	parietal	SCAN
rs597788	ACAT1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108226600-108257400	Weak transcription	Right Ventricle	heart
2	chr11:108239600-108260800	Weak transcription	Brain Hippocampus Middle	brain

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