Variant report

Variant	rs12322003
Chromosome Location	chr12:26044273-26044274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12306291	0.80[AFR][1000 genomes]
rs1390324	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16929602	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16929615	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16929655	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16929667	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16929669	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16929681	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2054889	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4485193	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4963930	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4963931	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4963932	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4963933	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4963935	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55706441	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55920249	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57563237	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73073022	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73074805	0.91[EUR][1000 genomes]
rs73074809	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73074810	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73074813	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73074823	0.91[EUR][1000 genomes]
rs73088141	0.96[EUR][1000 genomes]
rs73088153	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73088155	0.95[EUR][1000 genomes]
rs73088172	0.92[AMR][1000 genomes];0.93[EUR][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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 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	chr12:26039200-26044400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:26043200-26045400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:26044200-26044400	Weak transcription	NHEK	skin

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