Variant report

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs152906	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs181850	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs185177	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs251213	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs251214	0.84[ASN][1000 genomes]
rs251387	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36693	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36694	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36697	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36698	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36700	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36702	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36712	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36714	0.85[AMR][1000 genomes]
rs36715	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs40527	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs42916	0.85[AMR][1000 genomes];0.86[EUR][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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2546147	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:127548400-127552800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:127549000-127552800	Weak transcription	Esophagus	oesophagus
4	chr5:127549400-127552600	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:127549800-127553000	Weak transcription	Fetal Stomach	stomach
6	chr5:127551400-127553800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:127552000-127553400	Enhancers	Fetal Lung	lung
8	chr5:127552000-127553600	Enhancers	Osteobl	bone
9	chr5:127552000-127554000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:127552200-127553400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:127552200-127553400	Enhancers	Left Ventricle	heart
12	chr5:127552200-127553600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:127552200-127553600	Enhancers	NH-A	brain
14	chr5:127552400-127552600	Enhancers	NHEK	skin
15	chr5:127552400-127553200	Enhancers	HSMMtube	muscle
16	chr5:127552400-127553400	Enhancers	HSMM	muscle
17	chr5:127552400-127553400	Enhancers	NHDF-Ad	bronchial
18	chr5:127552400-127553600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:127552400-127553800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:127552400-127554000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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