Variant report

Variant	rs2830434
Chromosome Location	chr21:28091642-28091643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2830381	0.87[EUR][1000 genomes]
rs2830384	0.87[EUR][1000 genomes]
rs2830398	0.85[ASN][1000 genomes]
rs2830416	0.85[ASN][1000 genomes]
rs2830417	0.85[ASN][1000 genomes]
rs2830422	0.85[ASN][1000 genomes]
rs2830430	0.91[ASN][1000 genomes]
rs3017521	0.91[ASN][1000 genomes]
rs3017522	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974534	0.87[ASN][1000 genomes]
rs9984497	0.87[EUR][1000 genomes]
rs9984500	0.87[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	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
rs2830434	ATP5J	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28090000-28095400	Weak transcription	Dnd41	blood
2	chr21:28091600-28092200	Enhancers	Fetal Muscle Trunk	muscle
3	chr21:28091600-28092800	Enhancers	HSMM	muscle
4	chr21:28091600-28092800	Enhancers	HSMMtube	muscle

Quick Search:

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

what's new

Quick links