Variant report

Variant	rs7295972
Chromosome Location	chr12:117747368-117747369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2077171	0.90[ASW][hapmap]
rs3782204	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505381	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs509190	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs522910	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs547954	0.82[CHB][hapmap]
rs552268	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs567910	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7308402	0.81[ASW][hapmap]
rs733334	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7977109	0.96[CEU][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs816297	0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9658303	0.81[ASW][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7295972	PLBD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117728000-117771200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:117735000-117748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:117739800-117771400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:117740000-117756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:117747000-117747600	Strong transcription	NHEK	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