Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11948187	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948538	1.00[EUR][1000 genomes]
rs11948830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11949387	1.00[EUR][1000 genomes]
rs11949669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11950791	1.00[EUR][1000 genomes]
rs11952116	0.85[AMR][1000 genomes]
rs11953559	1.00[EUR][1000 genomes]
rs11953906	1.00[AMR][1000 genomes]
rs11954798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956430	0.85[AMR][1000 genomes]
rs11956800	1.00[EUR][1000 genomes]
rs11959532	1.00[EUR][1000 genomes]
rs34086862	1.00[AMR][1000 genomes]
rs57113080	0.83[AMR][1000 genomes]
rs58548907	1.00[EUR][1000 genomes]
rs59757131	1.00[EUR][1000 genomes]
rs61341835	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6878004	0.83[AMR][1000 genomes]
rs7731164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112678800-112682400	Enhancers	HMEC	breast
3	chr5:112679000-112682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112679800-112683000	Weak transcription	Fetal Stomach	stomach
5	chr5:112680400-112682000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112680600-112682000	Enhancers	NHEK	skin
7	chr5:112681000-112681800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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