Variant report

Variant	rs4888070
Chromosome Location	chr16:80144440-80144441
allele	A/G
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]
rs10514482	0.95[EUR][1000 genomes]
rs16952369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16952436	0.95[EUR][1000 genomes]
rs17711661	0.81[CEU][hapmap]
rs4888072	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889096	0.89[ASN][1000 genomes]
rs62049488	0.84[EUR][1000 genomes]
rs62050805	0.91[EUR][1000 genomes]
rs62050806	0.88[EUR][1000 genomes]
rs62050837	0.88[EUR][1000 genomes]
rs62050841	0.86[EUR][1000 genomes]
rs62050845	0.88[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	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4888070	MEST	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:80140200-80151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:80142600-80145800	Weak transcription	NHEK	skin
4	chr16:80143000-80148000	Weak transcription	HMEC	breast
5	chr16:80143400-80151000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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