Variant report

Variant	rs73183816
Chromosome Location	chr13:48074681-48074682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1359664	0.95[EUR][1000 genomes]
rs1359666	0.83[EUR][1000 genomes]
rs1547654	0.95[EUR][1000 genomes]
rs1571064	0.91[EUR][1000 genomes]
rs1575895	0.95[EUR][1000 genomes]
rs2478317	0.95[EUR][1000 genomes]
rs2478334	1.00[EUR][1000 genomes]
rs2478335	1.00[EUR][1000 genomes]
rs2478336	1.00[EUR][1000 genomes]
rs2503428	0.91[EUR][1000 genomes]
rs2503429	0.91[EUR][1000 genomes]
rs2503430	0.91[EUR][1000 genomes]
rs2503443	0.95[EUR][1000 genomes]
rs2503451	1.00[EUR][1000 genomes]
rs2503452	1.00[EUR][1000 genomes]
rs2503453	1.00[EUR][1000 genomes]
rs55857069	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088519	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56234161	0.96[EUR][1000 genomes]
rs73180381	1.00[EUR][1000 genomes]
rs73180389	1.00[EUR][1000 genomes]
rs73182280	1.00[EUR][1000 genomes]
rs73182288	1.00[EUR][1000 genomes]
rs73182301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183803	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183804	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183809	1.00[EUR][1000 genomes]
rs73183810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183822	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183826	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183827	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183831	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183840	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183841	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73183844	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183851	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183852	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183854	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183856	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183857	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183859	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183860	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183862	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183864	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183869	0.92[ASN][1000 genomes]
rs7993497	1.00[EUR][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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48071200-48075200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:48072200-48076400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:48072600-48076200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:48072600-48076200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:48072800-48082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:48073200-48074800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:48073400-48074800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:48073400-48074800	Enhancers	NHLF	lung
9	chr13:48073400-48075000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:48073800-48078200	Enhancers	Hela-S3	cervix
11	chr13:48074000-48074800	Enhancers	HMEC	breast
12	chr13:48074000-48075000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:48074000-48075200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:48074400-48075000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr13:48074400-48075400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:48074400-48075600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:48074400-48082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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