Variant report

Variant	rs74129464
Chromosome Location	chr1:152285759-152285760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11204983	1.00[EUR][1000 genomes]
rs12057680	1.00[EUR][1000 genomes]
rs12060296	1.00[EUR][1000 genomes]
rs12066296	1.00[EUR][1000 genomes]
rs12067755	1.00[EUR][1000 genomes]
rs12078392	1.00[EUR][1000 genomes]
rs12083959	1.00[EUR][1000 genomes]
rs16833865	1.00[EUR][1000 genomes]
rs16833870	1.00[EUR][1000 genomes]
rs16833876	1.00[EUR][1000 genomes]
rs16834174	1.00[EUR][1000 genomes]
rs1858481	1.00[EUR][1000 genomes]
rs28655434	1.00[EUR][1000 genomes]
rs3120654	1.00[EUR][1000 genomes]
rs3126087	1.00[EUR][1000 genomes]
rs3126093	1.00[EUR][1000 genomes]
rs3134871	1.00[EUR][1000 genomes]
rs41363352	1.00[EUR][1000 genomes]
rs56024264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56106510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56156422	1.00[EUR][1000 genomes]
rs56244386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57272962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57760863	1.00[AMR][1000 genomes]
rs57934636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58132665	1.00[EUR][1000 genomes]
rs58788896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58823849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60179982	1.00[EUR][1000 genomes]
rs60525930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61705633	1.00[AMR][1000 genomes]
rs73003080	1.00[EUR][1000 genomes]
rs73004841	1.00[EUR][1000 genomes]
rs73004845	1.00[EUR][1000 genomes]
rs73004848	1.00[EUR][1000 genomes]
rs73004856	1.00[EUR][1000 genomes]
rs73004882	1.00[EUR][1000 genomes]
rs73004888	1.00[EUR][1000 genomes]
rs733439	1.00[EUR][1000 genomes]
rs74126341	1.00[EUR][1000 genomes]
rs74126343	1.00[EUR][1000 genomes]
rs74127703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127942	1.00[AMR][1000 genomes]
rs74129414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129458	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74129466	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv18892	chr1:152274215-152287539	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv471348	chr1:152274651-152297679	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1810816	chr1:152274993-152286236	Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1827528	chr1:152274993-152286236	Strong transcription ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1812211	chr1:152275193-152286036	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1826389	chr1:152275193-152286036	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	2 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	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
2	chr1:152280400-152286400	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:152283000-152286200	Weak transcription	Ovary	ovary
4	chr1:152283600-152287000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:152284600-152286000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:152285000-152285800	Active TSS	Brain Substantia Nigra	brain
7	chr1:152285200-152286200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:152285200-152297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:152285400-152286200	ZNF genes & repeats	Pancreas	Pancrea
10	chr1:152285400-152287800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:152285400-152288600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:152285600-152286000	ZNF genes & repeats	Esophagus	oesophagus

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