Variant report

Variant	rs73254758
Chromosome Location	chr12:29228575-29228576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10734770	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10743643	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11049992	0.91[EUR][1000 genomes]
rs1121577	0.83[EUR][1000 genomes]
rs11502454	0.92[EUR][1000 genomes]
rs12298186	0.91[EUR][1000 genomes]
rs12302010	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12302231	0.92[EUR][1000 genomes]
rs12304386	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12305429	0.92[EUR][1000 genomes]
rs12309591	0.89[EUR][1000 genomes]
rs12311115	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12320204	0.85[EUR][1000 genomes]
rs1353460	0.94[EUR][1000 genomes]
rs1390542	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496221	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17449204	0.89[EUR][1000 genomes]
rs17449238	0.89[EUR][1000 genomes]
rs1826801	0.80[EUR][1000 genomes]
rs1865763	0.94[EUR][1000 genomes]
rs1865764	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2164493	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2196479	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2349971	0.88[EUR][1000 genomes]
rs28544897	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3940535	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930849	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930850	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4930852	0.85[ASN][1000 genomes]
rs4931154	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59113616	0.87[EUR][1000 genomes]
rs60329521	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6487757	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6487764	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66487137	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66712682	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67060812	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67087836	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67287552	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67563394	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67760969	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs716704	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304088	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73061737	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73061745	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7315912	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7316030	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73254786	0.94[EUR][1000 genomes]
rs73268857	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73268858	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73273123	0.85[EUR][1000 genomes]
rs7964313	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966290	0.95[EUR][1000 genomes];0.93[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73254758	RP11-996F15.2	cis	Artery Tibial	GTEx
rs73254758	RP11-996F15.2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29226400-29228600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:29226600-29233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:29226800-29229600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:29227000-29229400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:29227200-29229000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29227400-29228800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:29227800-29228600	Enhancers	Osteobl	bone
8	chr12:29228000-29233800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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