Variant report

Variant	rs8053483
Chromosome Location	chr16:59608370-59608371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1482243	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1482259	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1482260	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1564578	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs170181	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17258603	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs173759	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17796442	0.80[EUR][1000 genomes]
rs312135	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs31979	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs31980	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs31981	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs31982	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs31983	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs31984	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs31985	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs31986	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs32002	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35037315	0.80[EUR][1000 genomes]
rs391350	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs399777	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40286	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6500043	0.81[AFR][1000 genomes]
rs6500044	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6500045	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6500046	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8055541	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8055877	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8056271	0.81[EUR][1000 genomes]
rs8061867	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8062551	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9888799	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9888883	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9928361	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9936381	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906747	chr16:59385832-60172030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv916423	chr16:59411801-59750824	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv572832	chr16:59578561-59756567	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59606600-59609000	Enhancers	HSMM	muscle
2	chr16:59607000-59608800	Enhancers	Osteobl	bone
3	chr16:59607200-59608800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:59607200-59608800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr16:59607200-59608800	Enhancers	NH-A	brain
6	chr16:59607400-59608400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:59607400-59608600	Enhancers	NHDF-Ad	bronchial
8	chr16:59608000-59608800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:59608000-59608800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:59608000-59609000	Flanking Active TSS	A549	lung
11	chr16:59608200-59609000	Enhancers	NHLF	lung

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