Variant report

Variant	rs457752
Chromosome Location	chr21:28171749-28171750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs456604	0.88[EUR][1000 genomes]
rs456954	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs460420	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs461141	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs465000	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs465401	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs457752	ATP5J	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28168400-28172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:28168400-28172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
5	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
6	chr21:28168800-28172400	Weak transcription	HSMMtube	muscle
7	chr21:28168800-28173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:28168800-28174000	Weak transcription	HSMM	muscle
9	chr21:28169000-28171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:28169000-28171800	Weak transcription	Fetal Lung	lung
11	chr21:28169000-28171800	Weak transcription	NHLF	lung
12	chr21:28169000-28172200	Weak transcription	Osteobl	bone
13	chr21:28169000-28172400	Weak transcription	NHDF-Ad	bronchial
14	chr21:28169000-28172600	Enhancers	Ovary	ovary
15	chr21:28169200-28171800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr21:28169200-28171800	Weak transcription	Colon Smooth Muscle	Colon
17	chr21:28169400-28172200	Weak transcription	Fetal Heart	heart
18	chr21:28169400-28173600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr21:28169600-28171800	Weak transcription	Fetal Stomach	stomach
20	chr21:28169600-28172400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:28169600-28173200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:28170800-28181000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr21:28171200-28172000	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr21:28171200-28172200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:28171400-28171800	Weak transcription	Placenta	Placenta
26	chr21:28171400-28174200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr21:28171600-28171800	Enhancers	Brain Hippocampus Middle	brain
28	chr21:28171600-28173000	Enhancers	Rectal Smooth Muscle	rectum
29	chr21:28171600-28173200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:28171600-28173400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:28171600-28173600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:28171600-28173800	Enhancers	Fetal Muscle Leg	muscle

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