Variant report

Variant	rs12853669
Chromosome Location	chr13:80194429-80194430
allele	G/T
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:39)

rs_ID	r²[population]
rs12583029	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12583361	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12872859	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12873323	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12873970	0.98[ASN][1000 genomes]
rs12874186	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17071691	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17071740	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17071744	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17071769	0.91[ASN][1000 genomes]
rs2208937	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2329127	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2476174	0.83[ASN][1000 genomes]
rs28882153	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34574726	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34629137	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34757198	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34993149	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4335681	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4506784	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4597201	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55902954	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58360508	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60407730	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6563120	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6563123	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563128	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6563130	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs71436528	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71436529	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7324718	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7324768	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7329850	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7333290	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7335083	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7983451	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7983467	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7999478	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8001082	0.81[AMR][1000 genomes];0.94[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	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80189400-80195600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:80192400-80194800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:80193800-80195400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:80194400-80195000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:80194400-80195000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:80194400-80195200	ZNF genes & repeats	NHEK	skin

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