Variant report

Variant	rs73352497
Chromosome Location	chr21:17462410-17462411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
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]
rs73352488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354406	1.00[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	0.93[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73367149	0.84[AFR][1000 genomes];1.00[AMR][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	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
2	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 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	chr21:17460800-17462800	Weak transcription	Brain Anterior Caudate	brain
5	chr21:17460800-17462800	Weak transcription	Brain Substantia Nigra	brain
6	chr21:17461000-17467000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:17461600-17463000	Enhancers	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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