Variant report

Variant	rs12719276
Chromosome Location	chr5:119744849-119744850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10051546	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10056249	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10068206	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478461	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478462	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12019326	1.00[ASN][1000 genomes]
rs13154169	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171079	0.80[EUR][1000 genomes]
rs13179086	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361012	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361317	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13436530	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1432459	1.00[ASN][1000 genomes]
rs1503927	0.80[EUR][1000 genomes]
rs17146502	1.00[ASN][1000 genomes]
rs17146514	1.00[ASN][1000 genomes]
rs17146517	1.00[ASN][1000 genomes]
rs17146599	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164648	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2099297	1.00[ASN][1000 genomes]
rs28673517	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786120	0.82[EUR][1000 genomes]
rs33936956	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57783585	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861613	1.00[ASN][1000 genomes]
rs6864618	0.80[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868582	1.00[ASN][1000 genomes]
rs6878650	1.00[ASN][1000 genomes]
rs6883355	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883954	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898093	1.00[ASN][1000 genomes]
rs714809	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71586481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782016	1.00[ASN][1000 genomes]
rs73784904	1.00[ASN][1000 genomes]
rs73784905	1.00[ASN][1000 genomes]
rs7702248	1.00[ASN][1000 genomes]
rs7708836	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119742000-119746600	Weak transcription	Right Ventricle	heart
2	chr5:119742000-119775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:119744400-119745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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