Variant report

Variant	rs2448941
Chromosome Location	chr8:51409556-51409557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10808836	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957914	1.00[CHB][hapmap]
rs10957915	0.86[CHB][hapmap]
rs10957916	0.86[CHB][hapmap]
rs10957927	0.85[ASN][1000 genomes]
rs1114500	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1114808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11781401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12546744	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs12547263	0.82[MEX][hapmap]
rs13258865	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1383815	0.82[CHB][hapmap]
rs1383819	0.82[MEX][hapmap]
rs1481467	0.82[CHB][hapmap]
rs1481468	0.82[CHB][hapmap]
rs1481482	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.93[ASN][1000 genomes]
rs1483643	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.93[ASN][1000 genomes]
rs1483644	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1542614	0.83[MEX][hapmap]
rs1904997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1994031	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.93[ASN][1000 genomes]
rs2062038	0.86[CHB][hapmap]
rs2128000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2170373	0.82[CHB][hapmap]
rs2251415	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2392627	0.86[CHB][hapmap]
rs2467205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623208	0.92[ASN][1000 genomes]
rs2623210	0.90[ASN][1000 genomes]
rs2623211	0.92[ASN][1000 genomes]
rs2623216	0.92[ASN][1000 genomes]
rs2623225	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2625736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2625752	0.92[ASN][1000 genomes]
rs2625755	0.92[ASN][1000 genomes]
rs2930096	0.93[ASN][1000 genomes]
rs310558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs310574	0.89[JPT][hapmap]
rs4442158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4873148	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs4873457	0.86[CHB][hapmap]
rs4873459	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6983589	0.86[CHB][hapmap]
rs6997739	0.82[CHB][hapmap]
rs7009024	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7015139	0.92[CHB][hapmap]
rs7827319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs7842092	0.86[CHB][hapmap]
rs9298323	0.86[CHB][hapmap]
rs9650165	0.86[CHB][hapmap]
rs9650166	0.86[CHB][hapmap]
rs996521	0.83[MEX][hapmap]
rs996524	1.00[CHB][hapmap];0.93[ASN][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	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
2	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
3	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
4	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
5	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
6	nsv971235	chr8:51406133-51409639	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2448941	PXDNL	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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