Variant report

Variant	rs12680523
Chromosome Location	chr8:114139597-114139598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10088226	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10093481	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10094251	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs10104117	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs10505197	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs10505202	0.88[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs10955648	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[YRI][hapmap]
rs11984724	0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11986420	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs11995255	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs11996690	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11997737	0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12334397	0.89[JPT][hapmap]
rs12675523	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12678623	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12678760	0.89[CEU][hapmap];0.91[CHB][hapmap]
rs12681814	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682363	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs13255149	0.89[JPT][hapmap]
rs1480445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1480461	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap]
rs1568552	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16884282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs16884294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16884296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16884331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16884442	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs16884503	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16884505	0.84[EUR][1000 genomes]
rs16892635	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs17606762	1.00[CEU][hapmap]
rs17679991	1.00[CEU][hapmap]
rs1879739	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1879740	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs28470386	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs28481615	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs28721970	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3967800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4551388	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs55810383	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61239354	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6985122	1.00[CEU][hapmap]
rs6993801	0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6995851	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7012235	0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs72670752	0.84[EUR][1000 genomes]
rs7460075	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7817251	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823590	0.88[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs7833953	0.88[CEU][hapmap]
rs7843856	0.85[CHD][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2753160	chr8:113920441-114190390	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2754581	chr8:114029421-114419106	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv831428	chr8:114102983-114320802	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv916637	chr8:114116303-114338450	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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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