Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1426597	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1426601	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17620983	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17621769	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17621906	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17693525	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17693837	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17694417	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17694566	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs551097	1.00[AFR][1000 genomes]
rs56288259	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs587704	1.00[AFR][1000 genomes]
rs62511794	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62511797	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62511798	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62511799	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62511816	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62511818	1.00[AFR][1000 genomes]
rs649871	1.00[AFR][1000 genomes]
rs72709940	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17692996	TERF1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69941000-69951600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:69942800-69948000	Enhancers	Osteobl	bone
3	chr8:69944000-69953600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:69946200-69951600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:69946200-69951600	Weak transcription	NHDF-Ad	bronchial
6	chr8:69946600-69955400	Weak transcription	Fetal Lung	lung
7	chr8:69946800-69951600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:69947400-69951600	Weak transcription	HSMM	muscle
9	chr8:69947600-69951800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:69947800-69951600	Weak transcription	Muscle Satellite Cultured Cells	--

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