Variant report

Variant	rs11994238
Chromosome Location	chr8:51520664-51520665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10087631	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10088424	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10088550	1.00[JPT][hapmap]
rs10090779	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10106921	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10107280	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs10108554	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs10110737	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs1157348	0.86[JPT][hapmap]
rs12334955	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs12542272	0.84[AFR][1000 genomes]
rs12675489	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs12677318	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs12679674	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12682223	0.90[ASN][1000 genomes]
rs13262667	0.87[AFR][1000 genomes]
rs1384828	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1384830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16915036	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs16915079	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16915097	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16915100	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2046355	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs28412668	0.88[ASN][1000 genomes]
rs3849806	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4617166	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873467	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6473239	0.86[JPT][hapmap]
rs6473247	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs6473249	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs6473253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6998737	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7002065	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7017918	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9298339	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51518200-51529000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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