Variant report

Variant	rs1393990
Chromosome Location	chr8:85464739-85464740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1021852	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1021853	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1039520	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10504803	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10504805	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114244	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1319379	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1320769	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1320770	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13248532	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13250018	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13252091	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs13253537	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13255463	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13264793	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351223	0.96[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs1479092	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1479093	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1479094	0.96[CEU][hapmap];0.95[JPT][hapmap]
rs1479096	0.92[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap]
rs1479098	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1503600	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1503601	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564314	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs1564315	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1564316	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1566791	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs1566792	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1824887	1.00[JPT][hapmap]
rs1847344	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1947960	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1994149	0.83[JPT][hapmap]
rs2046313	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2127218	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2169922	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs317947	0.85[JPT][hapmap]
rs4739691	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4740015	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4740016	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4740018	0.96[CEU][hapmap];0.80[CHB][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap]
rs4740019	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4740023	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[ASN][1000 genomes]
rs4740024	0.80[ASN][1000 genomes]
rs60533047	0.80[ASN][1000 genomes]
rs6473552	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6473553	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6473554	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6473555	0.96[CEU][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011638	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7013087	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs711002	0.85[JPT][hapmap]
rs711006	0.85[JPT][hapmap]
rs711007	0.83[ASW][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs711011	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs711027	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs711032	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs711033	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs711041	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs711048	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs711052	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs711054	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs711059	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[ASN][1000 genomes]
rs711060	1.00[ASW][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7820792	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7822198	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7822220	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs783507	0.85[JPT][hapmap]
rs783508	0.85[JPT][hapmap]
rs783509	0.85[JPT][hapmap]
rs783788	0.85[JPT][hapmap]
rs783789	0.85[JPT][hapmap]
rs783791	0.85[JPT][hapmap]
rs7845599	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9298424	0.83[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1393990	PSKH2	cis	cerebellum	SCAN

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

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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