Variant report

Variant	rs55710291
Chromosome Location	chr12:29235470-29235471
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10843325	1.00[AMR][1000 genomes]
rs12305958	0.87[AFR][1000 genomes]
rs12315255	0.90[AFR][1000 genomes]
rs12319491	0.90[AFR][1000 genomes]
rs12819686	1.00[AMR][1000 genomes]
rs12820515	1.00[AMR][1000 genomes]
rs12831837	1.00[AMR][1000 genomes]
rs34170651	1.00[AMR][1000 genomes]
rs34572599	1.00[AMR][1000 genomes]
rs34624113	1.00[AMR][1000 genomes]
rs34690032	1.00[AMR][1000 genomes]
rs34879577	1.00[AMR][1000 genomes]
rs35039649	1.00[AMR][1000 genomes]
rs35447364	1.00[AMR][1000 genomes]
rs35708989	1.00[AMR][1000 genomes]
rs55880276	1.00[AMR][1000 genomes]
rs56235020	0.90[AFR][1000 genomes]
rs56269416	1.00[AMR][1000 genomes]
rs57106561	1.00[AMR][1000 genomes]
rs59663308	1.00[AMR][1000 genomes]
rs59858313	0.84[AFR][1000 genomes]
rs60656521	1.00[AMR][1000 genomes]
rs6487777	1.00[AMR][1000 genomes]
rs71453725	1.00[AMR][1000 genomes]
rs73063783	0.87[AFR][1000 genomes]
rs73065614	0.90[AFR][1000 genomes]
rs74076456	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076489	1.00[AMR][1000 genomes]
rs74076501	1.00[AMR][1000 genomes]
rs74077035	1.00[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29233800-29236200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:29235000-29235600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:29235000-29237600	Weak transcription	NHDF-Ad	bronchial
4	chr12:29235200-29235600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:29235200-29235600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:29235200-29235600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:29235200-29235600	Flanking Active TSS	NHEK	skin
8	chr12:29235200-29236200	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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