Variant report

Variant	rs12234974
Chromosome Location	chr8:60533280-60533281
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16925042	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925062	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925069	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16925089	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16925094	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16925109	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3857968	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321990	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460359	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501567	0.89[EUR][1000 genomes]
rs4518650	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56188656	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57310682	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60064130	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62504688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62504689	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62504693	0.89[EUR][1000 genomes]
rs62504703	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62506400	1.00[AFR][1000 genomes]
rs6990562	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003175	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655569	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655570	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655578	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814268	0.85[EUR][1000 genomes]
rs7842002	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643511	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792187	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030564	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539630	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:60531000-60536400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:60531200-60534600	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:60532400-60533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:60532400-60533800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:60532400-60533800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:60532400-60533800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:60533000-60536200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:60533000-60537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:60533000-60538000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:60533000-60541200	Weak transcription	Primary hematopoietic stem cells	blood

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