Variant report

Variant	rs42333
Chromosome Location	chr7:120422982-120422983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10225453	0.81[CEU][hapmap]
rs10266755	0.81[CEU][hapmap]
rs114420	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11976580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12154976	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs12673417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17142976	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17142995	0.84[CEU][hapmap]
rs17143013	0.93[ASN][1000 genomes]
rs2107275	0.95[CEU][hapmap]
rs2189974	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525706	0.81[ASN][1000 genomes]
rs2525710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2721329	0.81[ASN][1000 genomes]
rs2721330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2721332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2721344	0.93[ASN][1000 genomes]
rs2721346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2721348	0.93[ASN][1000 genomes]
rs2721360	0.93[ASN][1000 genomes]
rs2721371	0.93[ASN][1000 genomes]
rs3823859	0.81[CEU][hapmap]
rs3823861	0.86[CEU][hapmap]
rs41612	0.93[EUR][1000 genomes]
rs41613	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41614	0.86[EUR][1000 genomes]
rs41616	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41617	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41619	0.85[EUR][1000 genomes]
rs41620	0.84[EUR][1000 genomes]
rs41622	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];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs41623	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41624	0.86[CEU][hapmap]
rs41626	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41627	0.81[EUR][1000 genomes]
rs41629	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs41632	0.86[CEU][hapmap]
rs4730982	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733320	1.00[ASN][1000 genomes]
rs55749650	0.88[ASN][1000 genomes]
rs56023697	0.93[ASN][1000 genomes]
rs56067931	1.00[ASN][1000 genomes]
rs61481874	0.93[ASN][1000 genomes]
rs6466759	0.81[CEU][hapmap]
rs6466760	0.81[CEU][hapmap]
rs6466761	0.81[CEU][hapmap]
rs6466762	0.81[CEU][hapmap]
rs67679138	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6959328	0.81[CEU][hapmap]
rs73427871	0.93[ASN][1000 genomes]
rs73427873	0.93[ASN][1000 genomes]
rs73427878	0.93[ASN][1000 genomes]
rs73721472	0.94[ASN][1000 genomes]
rs7805733	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];0.92[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810542	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.84[MEX][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs886440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs42333	FLJ21986	cis	multi-tissue	Pritchard
rs42333	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120416400-120424800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:120418200-120423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:120418600-120423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:120419800-120423800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:120421600-120423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:120422800-120423000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:120422800-120423600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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