Variant report

Variant	rs10461562
Chromosome Location	chr5:52281829-52281830
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1363190	0.89[ASN][1000 genomes]
rs1363191	0.89[ASN][1000 genomes]
rs1445937	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16880627	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2279584	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2897456	0.84[ASN][1000 genomes]
rs3212392	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3212404	0.84[ASN][1000 genomes]
rs3212657	0.96[EUR][1000 genomes]
rs41315912	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58231501	0.96[EUR][1000 genomes]
rs6867926	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7703474	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7705061	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7717360	0.88[ASN][1000 genomes]
rs9637769	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52273600-52283800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:52279000-52283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:52279000-52283400	Enhancers	HUVEC	blood vessel
4	chr5:52279200-52283400	Enhancers	HMEC	breast
5	chr5:52279200-52284000	Enhancers	NHEK	skin
6	chr5:52279200-52284200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52279400-52282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:52279400-52283200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:52279400-52283200	Enhancers	Hela-S3	cervix
10	chr5:52279400-52283400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:52280200-52283200	Weak transcription	NH-A	brain
12	chr5:52280800-52283200	Weak transcription	A549	lung
13	chr5:52280800-52283200	Weak transcription	NHLF	lung
14	chr5:52281000-52282600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:52281000-52283400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:52281200-52283200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:52281200-52283200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:52281200-52283800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:52281600-52283200	Weak transcription	Osteobl	bone
20	chr5:52281600-52283600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:52281600-52283600	Weak transcription	NHDF-Ad	bronchial

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