Variant report

Variant	rs60312082
Chromosome Location	chr12:43259190-43259191
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11832448	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834842	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837032	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1915366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56785148	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57471025	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57908394	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58227715	0.89[AFR][1000 genomes]
rs59960276	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61708650	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66528023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66532738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73132746	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73285961	0.83[AFR][1000 genomes]
rs73285991	0.88[AFR][1000 genomes]
rs73285994	0.88[AFR][1000 genomes]
rs73286000	0.84[AFR][1000 genomes]
rs73287807	0.90[AFR][1000 genomes]
rs73287819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287821	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv558749	chr12:43180190-43275097	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43254200-43262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:43258800-43259200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:43258800-43259600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:43258800-43259600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:43258800-43259600	Enhancers	NHEK	skin
6	chr12:43258800-43260000	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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