Variant report

Variant	rs1373357
Chromosome Location	chr12:59417526-59417527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161201	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10467069	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10506356	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783929	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10783930	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10783933	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10877190	0.81[ASN][1000 genomes]
rs10877192	0.89[ASN][1000 genomes]
rs10877194	0.89[ASN][1000 genomes]
rs10877195	0.92[ASN][1000 genomes]
rs10877199	0.95[ASN][1000 genomes]
rs11172834	0.81[ASN][1000 genomes]
rs11172843	0.86[ASN][1000 genomes]
rs11172850	0.92[ASN][1000 genomes]
rs11172851	0.92[ASN][1000 genomes]
rs11172863	0.85[ASN][1000 genomes]
rs11172884	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11837281	0.86[ASN][1000 genomes]
rs1348492	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1373355	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1444091	0.87[EUR][1000 genomes]
rs1444093	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1444096	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1444097	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1838310	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1878868	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2028720	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2028721	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2137067	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2137068	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2166037	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2371979	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4760147	0.90[ASN][1000 genomes]
rs4760249	0.86[ASN][1000 genomes]
rs4760252	0.90[ASN][1000 genomes]
rs4760256	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61919468	0.86[ASN][1000 genomes]
rs61919473	0.84[ASN][1000 genomes]
rs6581225	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7133207	0.86[ASN][1000 genomes]
rs7135864	0.90[EUR][1000 genomes]
rs718135	0.92[ASN][1000 genomes]
rs7300137	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7300951	0.86[ASN][1000 genomes]
rs7302452	0.86[ASN][1000 genomes]
rs7305332	0.90[EUR][1000 genomes]
rs7306532	0.93[ASN][1000 genomes]
rs7955741	0.92[ASN][1000 genomes]
rs7961421	0.92[ASN][1000 genomes]
rs7963114	0.90[ASN][1000 genomes]
rs7979941	0.92[ASN][1000 genomes]
rs9668096	0.95[ASN][1000 genomes]
rs977819	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv526485	chr12:59412802-59422668	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv522058	chr12:59416727-59422668	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59408600-59420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59416000-59418800	Weak transcription	Aorta	Aorta
3	chr12:59417200-59418800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:59417400-59417800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:59417400-59418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:59417400-59418200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:59417400-59418200	Enhancers	Osteobl	bone
8	chr12:59417400-59418600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:59417400-59419200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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