Variant report

Variant	rs73352488
Chromosome Location	chr21:17458115-17458116
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57410031	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59616604	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352495	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354406	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358630	0.87[AFR][1000 genomes]
rs73367122	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73367140	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73367146	1.00[AMR][1000 genomes]
rs73367149	1.00[AMR][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	nsv913414	chr21:17383785-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2830060	chr21:17400916-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv527854	chr21:17400916-17459507	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1851038	chr21:17412144-17488119	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17446200-17481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:17446800-17472200	Weak transcription	Fetal Brain Female	brain
3	chr21:17454800-17466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr21:17455600-17459400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:17456000-17459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:17456800-17460400	Active TSS	Brain Angular Gyrus	brain
7	chr21:17457000-17458200	Enhancers	Adipose Nuclei	Adipose
8	chr21:17457000-17459600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr21:17457200-17458400	Enhancers	HSMM	muscle
10	chr21:17457200-17458600	Active TSS	Brain Anterior Caudate	brain
11	chr21:17457200-17458800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr21:17457200-17460000	Active TSS	Brain Substantia Nigra	brain
13	chr21:17457400-17458200	Enhancers	Fetal Heart	heart
14	chr21:17457400-17458600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:17457400-17458800	Flanking Active TSS	Osteobl	bone
16	chr21:17457400-17460000	Active TSS	Brain Cingulate Gyrus	brain
17	chr21:17457400-17460000	Active TSS	Brain Hippocampus Middle	brain
18	chr21:17457600-17458800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:17457800-17458200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:17457800-17458400	Active TSS	NHDF-Ad	bronchial
21	chr21:17457800-17458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:17458000-17458200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:17458000-17458200	Flanking Active TSS	NH-A	brain
24	chr21:17458000-17458600	Active TSS	HSMMtube	muscle
25	chr21:17458000-17460400	Weak transcription	Psoas Muscle	Psoas

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