Variant report

Variant	rs2830437
Chromosome Location	chr21:28092289-28092290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2830424	0.92[EUR][1000 genomes]
rs2830435	0.85[AFR][1000 genomes]
rs2830436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv459223	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv587337	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2830437	APP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28090000-28095400	Weak transcription	Dnd41	blood
2	chr21:28091600-28092800	Enhancers	HSMM	muscle
3	chr21:28091600-28092800	Enhancers	HSMMtube	muscle
4	chr21:28092000-28092800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr21:28092000-28093000	Enhancers	Fetal Heart	heart
6	chr21:28092200-28092400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:28092200-28092400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:28092200-28092600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr21:28092200-28092600	Enhancers	Brain Germinal Matrix	brain
10	chr21:28092200-28093000	Enhancers	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

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

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