Variant report

Variant	rs17368044
Chromosome Location	chr8:110458819-110458820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10093885	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100944	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108704	1.00[ASN][1000 genomes]
rs11550169	1.00[JPT][hapmap]
rs11778756	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784792	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785973	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563581	0.83[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375750	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17445342	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446406	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892761	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28463252	1.00[ASN][1000 genomes]
rs28491535	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800074	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932317	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55959787	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56109503	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56379526	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59237049	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60189528	1.00[ASN][1000 genomes]
rs61467163	1.00[ASN][1000 genomes]
rs6469255	1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469264	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap]
rs6982826	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs6995033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6999170	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008687	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669109	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72669111	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72669122	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72669124	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72669127	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72669129	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72669131	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72682697	1.00[ASN][1000 genomes]
rs72684719	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684799	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687010	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687015	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816624	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817639	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818929	1.00[ASN][1000 genomes]
rs7820734	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836433	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842842	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9656791	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656881	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1018510	chr8:110403496-110504029	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17368044	PKHD1L1	cis	lymphoblastoid	seeQTL
rs17368044	EBAG9	cis	parietal	SCAN
rs17368044	ANGPT1	cis	parietal	SCAN
rs17368044	Hs.171169	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110455600-110463000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:110457800-110462800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:110457800-110462800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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