Variant report

Variant	rs2924717
Chromosome Location	chr8:4839199-4839200
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10102858	0.92[ASN][1000 genomes]
rs12334427	1.00[JPT][hapmap]
rs12334743	1.00[JPT][hapmap]
rs12334744	1.00[JPT][hapmap]
rs12334748	1.00[JPT][hapmap]
rs12334931	1.00[JPT][hapmap]
rs12541001	1.00[JPT][hapmap]
rs12542498	1.00[CHB][hapmap]
rs13249466	1.00[JPT][hapmap]
rs13259602	1.00[JPT][hapmap]
rs17071982	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28729363	0.92[ASN][1000 genomes]
rs2924715	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924730	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2977728	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2977729	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911307	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4875129	1.00[JPT][hapmap]
rs5001120	1.00[JPT][hapmap]
rs5001124	1.00[JPT][hapmap]
rs5001125	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5001126	1.00[JPT][hapmap]
rs62489453	0.87[EUR][1000 genomes]
rs62489455	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6558944	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6981938	1.00[JPT][hapmap]
rs6990414	1.00[JPT][hapmap]
rs6990769	1.00[JPT][hapmap]
rs6999675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7013059	1.00[ASN][1000 genomes]
rs7016302	0.88[CEU][hapmap]
rs73497791	1.00[ASN][1000 genomes]
rs73497797	1.00[ASN][1000 genomes]
rs7825060	1.00[JPT][hapmap]
rs7828818	1.00[JPT][hapmap]
rs7829151	1.00[JPT][hapmap]
rs7840682	1.00[JPT][hapmap]
rs9987079	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1031402	chr8:4827087-4842934	Strong transcription Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4832000-4848200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:4835200-4847200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:4835600-4848200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:4838800-4840200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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