Variant report

Variant	rs6472395
Chromosome Location	chr8:69254642-69254643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10098538	0.96[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];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099008	0.99[ASN][1000 genomes]
rs10101369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10104993	0.80[GIH][hapmap]
rs1092884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13251356	0.92[EUR][1000 genomes]
rs13257807	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13261104	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13262740	1.00[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13272720	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13276394	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap]
rs13278793	0.98[EUR][1000 genomes]
rs1517119	0.85[ASN][1000 genomes]
rs1517120	0.85[ASN][1000 genomes]
rs1517126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1589055	0.85[ASN][1000 genomes]
rs1607142	0.84[ASN][1000 genomes]
rs1607143	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1807806	0.94[ASN][1000 genomes]
rs1880535	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1914328	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1971404	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1971527	0.98[EUR][1000 genomes]
rs2037680	0.97[ASN][1000 genomes]
rs2048891	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2048892	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2090421	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2138677	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2176368	0.96[CEU][hapmap]
rs2243693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2263127	0.85[ASN][1000 genomes]
rs2591013	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2591018	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2676658	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2692026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2692027	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6982836	0.84[MEX][hapmap]
rs6991818	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs7000384	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7001418	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7004646	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7013597	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7015549	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7017437	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs7818147	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7822588	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7823116	1.00[CEU][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7823422	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7829425	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs7838935	0.89[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs814438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs814443	0.87[CHB][hapmap];0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs814446	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs814449	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs814450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs814451	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs814452	0.97[ASN][1000 genomes]
rs814453	0.96[ASN][1000 genomes]
rs814462	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs814464	0.90[ASN][1000 genomes]
rs868546	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6472395	RPS20	trans	parietal	SCAN

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

No data

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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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