Variant report

Variant	rs3133933
Chromosome Location	chr8:110696606-110696607
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10100734	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954713	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2022930	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2154656	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2154658	0.81[CEU][hapmap]
rs2703383	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2844243	0.83[EUR][1000 genomes]
rs2844250	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3108830	0.83[EUR][1000 genomes]
rs3108834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108835	0.86[EUR][1000 genomes]
rs3108836	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108841	0.90[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs3108855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108867	0.83[EUR][1000 genomes]
rs3133920	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133923	0.83[EUR][1000 genomes]
rs3133931	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133932	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133938	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133939	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134316	0.83[EUR][1000 genomes]
rs3134318	0.83[EUR][1000 genomes]
rs3134326	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134328	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134329	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134332	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134333	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134335	0.83[EUR][1000 genomes]
rs3134336	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34147744	0.83[EUR][1000 genomes]
rs34649979	0.83[EUR][1000 genomes]
rs35642643	0.83[EUR][1000 genomes]
rs61152293	0.81[EUR][1000 genomes]
rs6469274	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs71526740	0.83[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3133933	PKHD1L1	cis	multi-tissue	Pritchard
rs3133933	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs3133933	PKHD1L1	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110693600-110696800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:110693600-110696800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:110695600-110699000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:110696600-110697400	Enhancers	Cortex derived primary cultured neurospheres	brain

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