Variant report

Variant	rs10483947
Chromosome Location	chr14:80775115-80775116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10131076	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10133463	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140980	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10144099	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10146631	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149251	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10150064	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10150190	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11159454	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851891	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1388378	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17110449	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17110492	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17110521	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1884071	0.95[ASN][1000 genomes]
rs1907526	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955625	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2160354	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2160355	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267872	1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs2267873	0.86[TSI][hapmap]
rs2273173	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295138	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28607034	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28883971	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55859799	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884286	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56033314	0.84[EUR][1000 genomes]
rs61989398	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6574551	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7140952	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs7141617	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145153	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7145584	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7146189	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7154177	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs7154898	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159642	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7159995	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7160310	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs7350729	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8003183	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009555	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011716	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652301	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9972105	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9972275	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][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	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv902115	chr14:80700351-80844239	Enhancers Weak transcription Flanking Active TSS 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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80771200-80780000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:80772000-80775400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:80774400-80777000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:80774800-80775200	Enhancers	Fetal Lung	lung

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