Variant report

Variant	rs3133920
Chromosome Location	chr8:110683166-110683167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10100734	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270118	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954713	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2022930	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2154656	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2154658	0.81[CEU][hapmap]
rs2703383	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2844243	0.86[EUR][1000 genomes]
rs2844250	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3108830	0.86[EUR][1000 genomes]
rs3108834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108835	0.83[EUR][1000 genomes]
rs3108836	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108841	0.90[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs3108855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108867	0.86[EUR][1000 genomes]
rs3133923	0.86[EUR][1000 genomes]
rs3133931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133932	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133938	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133939	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134316	0.86[EUR][1000 genomes]
rs3134318	0.86[EUR][1000 genomes]
rs3134326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134328	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134329	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134332	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134333	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134335	0.81[EUR][1000 genomes]
rs3134336	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34147744	0.86[EUR][1000 genomes]
rs34649979	0.86[EUR][1000 genomes]
rs35642643	0.86[EUR][1000 genomes]
rs61152293	0.83[EUR][1000 genomes]
rs6469274	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs71526740	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3133920	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs3133920	PKHD1L1	cis	multi-tissue	Pritchard
rs3133920	PKHD1L1	cis	Lymphoblastoid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110679800-110695000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:110681000-110684400	Weak transcription	Stomach Smooth Muscle	stomach

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