Variant report

Variant	rs12316244
Chromosome Location	chr12:74733047-74733048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10748254	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10785109	0.80[ASN][1000 genomes]
rs11180020	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180022	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180025	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180028	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180031	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308084	0.80[ASN][1000 genomes]
rs2365712	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953924	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7979590	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980192	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74731200-74733800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:74731400-74733400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:74731400-74733800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:74731600-74733600	Enhancers	NHDF-Ad	bronchial
5	chr12:74731600-74733600	Enhancers	Osteobl	bone
6	chr12:74732000-74733400	Weak transcription	HSMM	muscle
7	chr12:74732600-74735200	Weak transcription	HUVEC	blood vessel
8	chr12:74732800-74733200	Enhancers	NHEK	skin
9	chr12:74732800-74733600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:74733000-74733200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:74733000-74733200	Enhancers	A549	lung
12	chr12:74733000-74733400	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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