Variant report

Variant	rs55638352
Chromosome Location	chr5:114436730-114436731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1026006	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11241313	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241314	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241315	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11951180	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12186657	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12188014	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12188143	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189322	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2974503	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2974511	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2974513	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55799813	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55898517	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55927006	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56250025	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62380016	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62380051	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62380053	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859538	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6881197	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72811756	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7706928	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114432400-114444600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:114435800-114437400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:114436000-114437200	Enhancers	HepG2	liver
4	chr5:114436200-114436800	Enhancers	A549	lung
5	chr5:114436200-114437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:114436200-114437000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:114436200-114437400	Enhancers	Ovary	ovary
8	chr5:114436400-114437000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:114436400-114437000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:114436400-114437000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:114436400-114437000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:114436400-114437000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:114436400-114437000	Enhancers	NHEK	skin

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