Variant report

Variant	rs73132746
Chromosome Location	chr12:43254554-43254555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11832448	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11832965	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11833425	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11834842	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11835041	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11837032	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1915366	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs56785148	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57471025	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57908394	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58227715	0.90[AFR][1000 genomes]
rs59960276	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60312082	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61708650	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs66528023	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs66532738	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73125867	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73285961	0.82[AFR][1000 genomes]
rs73285991	0.86[AFR][1000 genomes]
rs73285994	0.86[AFR][1000 genomes]
rs73286000	0.83[AFR][1000 genomes]
rs73287807	0.89[AFR][1000 genomes]
rs73287819	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73287821	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3367246	chr12:43254299-43254759	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43252200-43254600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:43253800-43254600	Enhancers	HSMMtube	muscle
3	chr12:43254000-43255000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:43254000-43255600	Weak transcription	HSMM	muscle
5	chr12:43254200-43258800	Weak transcription	HMEC	breast
6	chr12:43254200-43262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:43254400-43258800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

Quick Search:

Input of quick search could be:

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

what's new

Quick links