Variant report

Variant	rs11954384
Chromosome Location	chr5:60511427-60511428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60510067..60512878-chr5:60631211..60633924,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10052753	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10054247	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10055076	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10069718	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10075959	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10076568	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11741431	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11744226	0.87[EUR][1000 genomes]
rs11745179	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11745233	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11745696	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11750566	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13163684	0.82[EUR][1000 genomes]
rs13181515	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13181517	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13183007	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13183464	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13185516	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13186053	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13190305	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs159365	0.94[ASN][1000 genomes]
rs28409386	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34598	0.81[JPT][hapmap]
rs34635	0.97[ASN][1000 genomes]
rs35185283	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72759289	0.87[EUR][1000 genomes]
rs767634	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs7721603	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs9291707	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.89[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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	esv1845980	chr5:60481408-60511495	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60511400-60513000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:60511400-60513200	Enhancers	Cortex derived primary cultured neurospheres	brain

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