Variant report

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

rs_ID	r²[population]
rs2000781	1.00[EUR][1000 genomes]
rs2823885	1.00[EUR][1000 genomes]
rs2823890	1.00[EUR][1000 genomes]
rs8129337	1.00[EUR][1000 genomes]
rs8133048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8134051	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17828600-17833400	Weak transcription	Esophagus	oesophagus
2	chr21:17828800-17831200	Weak transcription	Brain Angular Gyrus	brain
3	chr21:17828800-17833600	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:17828800-17834600	Weak transcription	Left Ventricle	heart
5	chr21:17828800-17835000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr21:17829000-17831000	Weak transcription	Brain Substantia Nigra	brain
7	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:17829600-17830800	Enhancers	Brain Germinal Matrix	brain
9	chr21:17829600-17831800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:17829600-17835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:17829600-17835600	Weak transcription	Fetal Brain Female	brain
12	chr21:17830000-17831400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:17830000-17833400	Weak transcription	Fetal Heart	heart
14	chr21:17830200-17835000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr21:17830200-17835200	Weak transcription	Brain Anterior Caudate	brain
16	chr21:17830200-17837200	Weak transcription	Ovary	ovary
17	chr21:17830200-17837600	Weak transcription	Right Ventricle	heart
18	chr21:17830200-17842200	Weak transcription	Psoas Muscle	Psoas
19	chr21:17830400-17845600	Weak transcription	Right Atrium	heart
20	chr21:17830600-17831800	Enhancers	Pancreatic Islets	Pancreatic Islet

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