Variant report

Variant	rs12873970
Chromosome Location	chr13:80202306-80202307
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:39)

rs_ID	r²[population]
rs12583029	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12583361	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12853669	0.98[ASN][1000 genomes]
rs12872859	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12873323	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12874186	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17071691	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071740	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17071744	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17071769	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2208937	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329127	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2476174	0.81[ASN][1000 genomes]
rs28882153	0.83[ASN][1000 genomes]
rs34574726	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34629137	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34757198	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34993149	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4335681	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4506784	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4597201	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55902954	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58360508	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60407730	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563120	0.90[EUR][1000 genomes]
rs6563123	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563128	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6563130	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71436528	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71436529	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7324718	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7324768	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7329850	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7333290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7335083	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7983451	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7983467	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7999478	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001082	1.00[EUR][1000 genomes];0.96[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	chr13:80198600-80203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:80198600-80205200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:80199400-80204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:80201600-80202600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:80202200-80202600	Weak transcription	HMEC	breast
6	chr13:80202200-80204400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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