Variant report

Variant	rs13254513
Chromosome Location	chr8:51548986-51548987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10110050	0.83[EUR][1000 genomes]
rs1018207	0.90[JPT][hapmap]
rs10216995	0.81[CHB][hapmap]
rs10958003	0.81[CHB][hapmap]
rs10958023	0.90[JPT][hapmap]
rs11779190	0.80[CHB][hapmap]
rs11786241	0.81[CHB][hapmap]
rs11986411	0.87[CEU][hapmap];0.89[TSI][hapmap]
rs11991963	0.81[CHB][hapmap]
rs13251712	0.83[EUR][1000 genomes]
rs13252069	0.81[CHB][hapmap]
rs13262678	0.81[CHB][hapmap]
rs13273663	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1396377	0.90[JPT][hapmap]
rs1483642	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1508623	0.96[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs1567311	0.86[TSI][hapmap]
rs1848437	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1905377	0.81[CHB][hapmap]
rs1911830	0.88[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2202797	0.90[JPT][hapmap]
rs2271203	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34708124	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34871864	0.90[JPT][hapmap]
rs4242462	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs6992551	0.82[JPT][hapmap]
rs7013366	0.90[JPT][hapmap]
rs717509	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap]
rs7844393	0.94[JPT][hapmap]
rs906656	0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51544200-51552600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:51545000-51553800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:51548600-51549400	Enhancers	HUVEC	blood vessel

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