Variant report

Variant	rs2714888
Chromosome Location	chr4:148229662-148229663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13150072	0.80[EUR][1000 genomes]
rs1366689	0.91[AMR][1000 genomes];0.94[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	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830108	chr4:148114652-148311104	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2714888	POU4F2	cis	cerebellum	SCAN
rs2714888	TTC29	cis	cerebellum	SCAN
rs2714888	EDNRA	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148227800-148230400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:148229400-148230000	Enhancers	Fetal Kidney	kidney
3	chr4:148229400-148230400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:148229400-148230600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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