Variant report

Variant	rs973959
Chromosome Location	chr5:54032140-54032141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10940420	0.94[CHB][hapmap]
rs10940421	0.89[CHB][hapmap]
rs12520102	0.94[CHB][hapmap];0.92[CHD][hapmap]
rs1979009	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979010	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979011	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4482860	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7701622	0.83[CHB][hapmap]
rs7735360	0.83[CHB][hapmap]
rs7735378	0.83[CHB][hapmap];0.89[CHD][hapmap]
rs7736184	0.89[CHB][hapmap];0.89[CHD][hapmap]

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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs973959	PELO	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
2	chr5:54027400-54035800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:54031600-54032400	Enhancers	NHDF-Ad	bronchial
4	chr5:54031600-54032600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:54031600-54032600	Enhancers	Fetal Heart	heart
6	chr5:54031600-54032600	Flanking Active TSS	K562	blood
7	chr5:54031800-54032600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:54031800-54032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:54031800-54034200	Enhancers	Fetal Lung	lung
10	chr5:54032000-54032200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:54032000-54032600	Enhancers	Fetal Stomach	stomach

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