Variant report

Variant	rs6471602
Chromosome Location	chr8:58320050-58320051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11990740	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11991955	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11994423	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994454	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994487	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11997856	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317835	0.92[ASN][1000 genomes]
rs16922090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16922102	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16922104	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738588	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738591	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55960888	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56121699	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56690481	0.85[ASN][1000 genomes]
rs56832078	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57744550	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57829000	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58748161	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59643894	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60129174	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60999477	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980863	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6980975	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981267	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981437	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981568	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6982211	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6985947	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6986207	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6995433	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6996802	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6996833	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6997730	0.91[ASN][1000 genomes]
rs7001461	0.92[ASN][1000 genomes]
rs7002746	0.91[ASN][1000 genomes]
rs7018061	0.91[ASN][1000 genomes]
rs7018443	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72652956	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72652957	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72652989	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72652991	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72652997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72652999	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72653000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654805	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831519	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7840258	0.90[ASN][1000 genomes]
rs9694509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9694545	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58318800-58320200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:58318800-58320200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:58319400-58320200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:58319400-58320200	Enhancers	NHEK	skin
5	chr8:58319800-58320200	Enhancers	Pancreas	Pancrea
6	chr8:58319800-58320200	Enhancers	NH-A	brain
7	chr8:58319800-58320400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:58320000-58320200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:58320000-58320400	Enhancers	Muscle Satellite Cultured Cells	--

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