Variant report

Variant	rs7277942
Chromosome Location	chr21:39880854-39880855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2836437	0.80[CEU][hapmap]
rs2836447	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.82[ASN][1000 genomes]
rs2836452	0.93[CEU][hapmap];0.89[CHB][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs73906314	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7277942	RUNX1	cis	cerebellum	SCAN
rs7277942	ST18	trans	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39879200-39882000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:39879200-39882400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:39879800-39884200	Weak transcription	HUVEC	blood vessel
4	chr21:39880000-39881000	Weak transcription	Spleen	Spleen
5	chr21:39880000-39881200	Weak transcription	Fetal Lung	lung
6	chr21:39880000-39891200	Weak transcription	Aorta	Aorta
7	chr21:39880200-39883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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