Variant report

Variant	rs12679715
Chromosome Location	chr8:68469048-68469049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10085934	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10086148	0.96[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10091234	0.92[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10808754	0.96[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808755	0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11781284	0.88[ASN][1000 genomes]
rs11997518	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs12056769	0.96[CHB][hapmap];0.80[JPT][hapmap];0.95[ASN][1000 genomes]
rs12681928	0.96[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682475	0.99[ASN][1000 genomes]
rs13265827	0.96[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266610	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268227	0.96[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277276	0.96[CHB][hapmap];0.80[JPT][hapmap];0.95[ASN][1000 genomes]
rs1503370	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1545824	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1809438	0.92[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2128105	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs34765332	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379025	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs392092	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs406796	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs448546	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737846	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs5008275	0.89[ASN][1000 genomes]
rs6472320	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002461	0.83[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7005868	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs7007047	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007331	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs729407	0.92[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs729408	0.92[ASN][1000 genomes]
rs7814309	0.87[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7814387	0.85[ASN][1000 genomes]
rs7818863	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7832751	0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7836691	0.92[ASN][1000 genomes]
rs900116	0.92[ASN][1000 genomes]
rs900117	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs900118	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs900119	0.89[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs900899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9657034	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9657086	0.87[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9657087	0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9657088	0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9772671	0.89[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68467200-68469400	Weak transcription	NHEK	skin
2	chr8:68467200-68469800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:68467400-68469400	Weak transcription	HMEC	breast
4	chr8:68468400-68470000	Enhancers	Pancreas	Pancrea
5	chr8:68468600-68470000	Enhancers	Fetal Stomach	stomach
6	chr8:68468800-68469200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:68468800-68472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:68469000-68469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:68469000-68469200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:68469000-68470600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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