Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11148129	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11148130	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183078	0.87[CHB][hapmap]
rs2026027	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2596242	0.87[CHB][hapmap]
rs4476073	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4941632	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs516801	0.87[CHB][hapmap]
rs516834	0.87[CHB][hapmap]
rs6561487	0.90[ASN][1000 genomes]
rs7324415	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331168	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs766776	1.00[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7993904	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9316423	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526506	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535112	0.96[CEU][hapmap];0.82[JPT][hapmap]
rs9535114	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535117	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535118	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535119	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49521000-49526000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:49521400-49524800	Weak transcription	Fetal Intestine Large	intestine
3	chr13:49521600-49529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:49523200-49525000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:49523200-49525800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:49523400-49525400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:49523600-49524800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:49524000-49525400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:49524000-49525600	Enhancers	HMEC	breast
10	chr13:49524200-49525000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:49524200-49525000	Weak transcription	Placenta	Placenta
12	chr13:49524200-49525400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:49524400-49525400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:49524600-49525000	Weak transcription	Fetal Intestine Small	intestine
15	chr13:49524600-49525400	Enhancers	NHEK	skin

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