Variant report

Variant	rs73324553
Chromosome Location	chr12:67759631-67759632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11176719	0.83[AFR][1000 genomes]
rs11176722	0.83[AFR][1000 genomes]
rs17249055	0.83[AFR][1000 genomes]
rs4264226	1.00[AMR][1000 genomes]
rs7308438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318862	1.00[AMR][1000 genomes]
rs73320722	1.00[AMR][1000 genomes]
rs73320740	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320770	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320773	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324565	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73326424	0.83[AFR][1000 genomes];1.00[AMR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67753400-67764400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:67757600-67760800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:67758200-67764000	Weak transcription	Fetal Lung	lung
5	chr12:67758400-67760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:67758600-67762200	Enhancers	Osteobl	bone
7	chr12:67759200-67760600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:67759200-67761000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:67759200-67762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:67759200-67762200	Enhancers	HSMM	muscle
11	chr12:67759400-67760000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:67759400-67760600	Weak transcription	NH-A	brain
13	chr12:67759400-67761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:67759400-67762400	Enhancers	HSMMtube	muscle
15	chr12:67759600-67759800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:67759600-67761000	Enhancers	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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