Variant report

Variant	rs7973139
Chromosome Location	chr12:29233937-29233938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10771462	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10771466	0.81[ASN][1000 genomes]
rs10771467	0.81[ASN][1000 genomes]
rs10843295	0.81[ASN][1000 genomes]
rs11049998	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050024	0.90[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11050038	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11050069	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11050080	0.82[AMR][1000 genomes]
rs11050105	0.89[JPT][hapmap]
rs11050116	0.83[JPT][hapmap]
rs11050119	0.84[JPT][hapmap]
rs11050122	0.84[JPT][hapmap]
rs11537408	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12578244	0.82[AMR][1000 genomes]
rs12578576	1.00[JPT][hapmap]
rs1865766	0.81[ASN][1000 genomes]
rs1865767	0.81[ASN][1000 genomes]
rs2060567	0.81[ASN][1000 genomes]
rs2060568	0.81[ASN][1000 genomes]
rs2099530	0.81[ASN][1000 genomes]
rs2117996	0.81[ASN][1000 genomes]
rs2164494	0.81[ASN][1000 genomes]
rs4141944	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4558201	0.81[ASN][1000 genomes]
rs4583013	0.81[ASN][1000 genomes]
rs4930843	0.81[ASN][1000 genomes]
rs4931135	0.81[ASN][1000 genomes]
rs6487741	0.81[ASN][1000 genomes]
rs6487742	0.81[ASN][1000 genomes]
rs6487745	0.81[ASN][1000 genomes]
rs6487746	0.81[ASN][1000 genomes]
rs6487749	0.81[ASN][1000 genomes]
rs7136128	0.81[ASN][1000 genomes]
rs7136405	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7295074	0.81[ASN][1000 genomes]
rs7297486	0.81[ASN][1000 genomes]
rs7301343	0.81[ASN][1000 genomes]
rs7316695	0.89[JPT][hapmap]
rs7959020	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7962367	0.81[ASN][1000 genomes]
rs7972016	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7976269	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978997	0.81[ASN][1000 genomes]
rs7979959	0.83[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29229600-29234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:29233800-29235000	Enhancers	NHDF-Ad	bronchial
3	chr12:29233800-29235200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:29233800-29235200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:29233800-29235400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:29233800-29236200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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