Variant report

Variant	rs12313069
Chromosome Location	chr12:29234609-29234610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10843302	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11049982	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11049984	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11049993	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11049994	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11049996	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11050000	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050002	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050016	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050027	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050100	0.91[EUR][1000 genomes]
rs1122176	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12228134	0.81[ASN][1000 genomes]
rs16933990	0.91[EUR][1000 genomes]
rs17706344	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17707217	0.91[EUR][1000 genomes]
rs67048928	0.91[EUR][1000 genomes]
rs73061763	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7307362	0.87[EUR][1000 genomes]
rs73073790	0.91[EUR][1000 genomes]
rs73074110	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73074119	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7952775	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7972564	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29233800-29235000	Enhancers	NHDF-Ad	bronchial
2	chr12:29233800-29235200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:29233800-29235200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29233800-29235400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:29233800-29236200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:29234000-29235000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29234200-29234800	Enhancers	Adipose Nuclei	Adipose
8	chr12:29234600-29235000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:29234600-29235000	Enhancers	Aorta	Aorta

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