Variant report

Variant	rs9330317
Chromosome Location	chr2:110284976-110284977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10195867	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036317	1.00[ASN][1000 genomes]
rs1036318	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10496432	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006297	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412327	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28464093	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28553892	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570680	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599496	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696274	0.83[AMR][1000 genomes]
rs3213866	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34111852	0.82[ASW][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes]
rs34269507	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34311530	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34441132	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821058	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223862	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531839	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35550721	1.00[ASN][1000 genomes]
rs35955221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482487	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953721	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953729	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953730	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953788	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953847	0.83[AMR][1000 genomes]
rs4953848	0.83[AMR][1000 genomes]
rs4953849	0.83[AMR][1000 genomes]
rs4953853	0.81[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes]
rs55794045	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56794190	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58031484	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594050	0.82[ASW][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes]
rs6709945	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719215	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725792	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737736	0.83[AMR][1000 genomes]
rs6751785	0.82[ASW][hapmap];0.88[CHD][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72824772	0.98[EUR][1000 genomes]
rs72824788	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824789	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72824796	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824800	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824802	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753492	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565483	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577865	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330321	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750931	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9751648	0.94[EUR][1000 genomes]
rs9752531	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9798179	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9330317	ACOXL	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110257800-110287800	Weak transcription	Gastric	stomach
2	chr2:110267800-110287600	Weak transcription	Right Atrium	heart
3	chr2:110271200-110285400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:110274000-110292800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:110275000-110285400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:110280600-110290600	Weak transcription	Fetal Kidney	kidney
7	chr2:110281000-110292800	Weak transcription	Spleen	Spleen
8	chr2:110283200-110285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:110284400-110287800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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