Variant report

Variant	rs1481472
Chromosome Location	chr8:51394818-51394819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10090266	0.84[CHB][hapmap]
rs10090468	0.90[EUR][1000 genomes]
rs10101856	0.84[CHB][hapmap]
rs1017841	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs10957915	0.92[CHB][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs10957916	0.92[CHB][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs11775411	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12216754	0.84[CHB][hapmap]
rs12541766	0.84[CHB][hapmap]
rs12543175	0.91[ASN][1000 genomes]
rs12544937	0.91[ASN][1000 genomes]
rs12545254	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546744	0.90[EUR][1000 genomes]
rs12546758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13248847	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13251708	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13258865	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266691	0.92[EUR][1000 genomes]
rs13274680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383818	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap]
rs1383820	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1471577	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1471578	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1481469	0.84[CHB][hapmap]
rs1481475	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1481476	0.84[CHB][hapmap]
rs1481477	0.84[CHB][hapmap]
rs1481482	0.95[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs1483636	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1483643	0.95[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs1483644	0.80[AMR][1000 genomes]
rs1483645	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542613	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1542615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs192844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1971259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1994031	0.95[MEX][hapmap];0.84[TSI][hapmap]
rs2062038	0.92[CHB][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs2068238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2251415	0.80[AMR][1000 genomes]
rs2392627	0.92[CHB][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes]
rs2392699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2623207	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623211	0.80[AMR][1000 genomes]
rs2623215	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623216	0.80[AMR][1000 genomes]
rs2623224	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2623225	0.80[AMR][1000 genomes]
rs2625739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2625750	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625751	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625752	0.80[AMR][1000 genomes]
rs2625753	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625755	0.80[AMR][1000 genomes]
rs2930096	0.80[AMR][1000 genomes]
rs310557	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs310562	0.86[ASW][hapmap];0.80[LWK][hapmap];0.94[YRI][hapmap]
rs310570	1.00[CEU][hapmap]
rs310574	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs310576	0.94[YRI][hapmap]
rs3919897	0.84[CHB][hapmap]
rs4440649	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap]
rs4538902	0.84[CHB][hapmap]
rs4577970	0.87[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873147	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873457	0.92[CHB][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs4873458	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873459	0.94[EUR][1000 genomes]
rs6473124	0.84[CHB][hapmap]
rs6473144	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983589	0.92[CHB][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes]
rs7007612	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015139	0.92[CHB][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes]
rs7817955	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7826421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7836540	1.00[ASN][1000 genomes]
rs7839067	0.90[TSI][hapmap]
rs7842092	0.92[CHB][hapmap];0.88[YRI][hapmap]
rs9298323	0.92[CHB][hapmap]
rs9643435	0.84[CHB][hapmap]
rs9650165	0.92[CHB][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs9650166	0.92[CHB][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes]
rs996523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs996524	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831312	chr8:51239772-51422844	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916262	chr8:51322341-51437077	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1481472	PXDNL	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51394600-51395000	Enhancers	Brain Germinal Matrix	brain
2	chr8:51394600-51395000	Enhancers	Ovary	ovary
3	chr8:51394600-51395200	Enhancers	Fetal Brain Female	brain
4	chr8:51394600-51395400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:51394800-51395200	Enhancers	Fetal Brain Male	brain
6	chr8:51394800-51395400	Enhancers	Dnd41	blood

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