Variant report

Variant	rs478333
Chromosome Location	chr2:169779156-169779157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169769700..169774524-chr2:169775649..169779398,6	K562	blood:

Variant related genes	Relation type
ENSG00000152253	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1101531	0.88[EUR][1000 genomes]
rs1101532	0.84[EUR][1000 genomes]
rs1101533	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1101534	0.89[EUR][1000 genomes]
rs1581397	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17540154	0.81[AFR][1000 genomes]
rs2250677	0.93[EUR][1000 genomes]
rs2544360	0.93[EUR][1000 genomes]
rs2544367	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2685803	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685804	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685805	0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685806	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685807	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2685808	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685810	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685811	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685812	0.87[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685813	1.00[CEU][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2685814	0.84[CEU][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2947987	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34193789	0.82[AFR][1000 genomes]
rs472614	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs473351	0.90[EUR][1000 genomes]
rs479682	1.00[CEU][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs480562	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs482508	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs495714	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs496550	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs497692	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs500432	0.85[EUR][1000 genomes]
rs503931	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs519035	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs519887	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs527150	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs531772	0.91[EUR][1000 genomes]
rs551754	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs555975	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs565412	1.00[CEU][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs567074	0.96[CEU][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs575671	0.91[EUR][1000 genomes]
rs579275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66798250	0.83[AFR][1000 genomes]
rs6709087	0.80[LWK][hapmap]
rs853772	0.85[CEU][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs853773	0.80[CHD][hapmap]
rs853775	0.85[EUR][1000 genomes]
rs853776	0.96[CEU][hapmap];0.88[CHD][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs853778	0.92[CEU][hapmap];0.85[CHD][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs853779	0.96[CEU][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs853780	0.96[CEU][hapmap];0.90[CHD][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs853781	0.92[CEU][hapmap];0.90[CHD][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs853782	0.87[EUR][1000 genomes]
rs853783	0.96[CEU][hapmap];0.90[CHD][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs853784	0.81[ASW][hapmap];0.96[CEU][hapmap];0.90[CHD][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs853785	1.00[CEU][hapmap];0.90[CHD][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs853786	1.00[CEU][hapmap];0.90[CHD][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs853788	1.00[CEU][hapmap];0.90[CHD][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs853790	0.91[EUR][1000 genomes]
rs853791	0.84[EUR][1000 genomes]
rs860510	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs862662	0.96[CEU][hapmap];0.90[CHD][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs864929	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs478333	AADAT	trans	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169776800-169785000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:169778000-169779400	Weak transcription	K562	blood
3	chr2:169778600-169782000	Strong transcription	Liver	Liver

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