Variant report

Variant	rs8000212
Chromosome Location	chr13:47863156-47863157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10220095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10507554	0.80[ASN][1000 genomes]
rs12016712	1.00[ASN][1000 genomes]
rs13378547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1413072	0.97[ASN][1000 genomes]
rs1413073	1.00[ASN][1000 genomes]
rs1413074	1.00[ASN][1000 genomes]
rs1413075	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069824	0.83[ASN][1000 genomes]
rs2065563	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561365	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6561366	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7320763	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001433	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316272	0.88[EUR][1000 genomes]
rs9316288	0.97[ASN][1000 genomes]
rs9316289	0.97[ASN][1000 genomes]
rs9316290	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9534600	0.87[EUR][1000 genomes]
rs9591016	0.88[EUR][1000 genomes]
rs9591018	0.93[EUR][1000 genomes]
rs9591026	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591027	0.97[ASN][1000 genomes]
rs9591028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591029	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591032	0.80[ASN][1000 genomes]
rs9595631	0.93[EUR][1000 genomes]
rs9595633	0.93[EUR][1000 genomes]
rs9595636	0.83[ASN][1000 genomes]
rs9595638	0.83[ASN][1000 genomes]
rs9595643	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	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	chr13:47862400-47863600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:47862800-47863200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:47862800-47874200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:47863000-47863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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