Variant report

Variant	rs2365481
Chromosome Location	chr3:158903431-158903432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1074881	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2365480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55989643	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56680876	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56791207	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57279778	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57789957	1.00[EUR][1000 genomes]
rs59142402	0.89[AFR][1000 genomes]
rs59185941	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59229685	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60959423	0.87[AMR][1000 genomes]
rs6793688	1.00[EUR][1000 genomes]
rs73877533	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73877535	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73877536	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73877539	0.87[AMR][1000 genomes]
rs73877541	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73877542	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73877543	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73877546	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73877548	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7628986	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7650928	1.00[EUR][1000 genomes]
rs7651706	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv470971	chr3:158590928-159158217	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3426016	chr3:158676623-158979242	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv491927	chr3:158692653-158952780	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv998949	chr3:158774806-159394550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1012602	chr3:158800182-159031618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158899400-158904600	Enhancers	Liver	Liver
2	chr3:158899600-158907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:158899800-158905000	Weak transcription	Stomach Mucosa	stomach
4	chr3:158902200-158903800	Enhancers	GM12878-XiMat	blood
5	chr3:158902600-158904600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:158902800-158905000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:158903000-158905600	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:158903200-158903600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:158903200-158906600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:158903200-158909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:158903400-158904400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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