Variant report

Variant	rs3133970
Chromosome Location	chr8:110761776-110761777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12547355	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1484018	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28630401	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28689139	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3102250	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3102252	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3102255	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108858	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108859	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108873	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108878	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108879	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133947	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133949	0.81[CHB][hapmap]
rs3133952	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133953	0.92[CEU][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133967	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133968	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133971	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134343	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134344	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3133970	PKHD1L1	cis	lymphoblastoid	seeQTL
rs3133970	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs3133970	EBAG9	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110759400-110765000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:110761200-110761800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:110761600-110765400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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