Variant report

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

rs_ID	r²[population]
rs10054159	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10069455	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10070843	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10076344	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10076391	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10473069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941365	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11111	1.00[ASN][1000 genomes]
rs12055296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13361833	0.92[ASN][1000 genomes]
rs2910701	0.90[ASN][1000 genomes]
rs2910705	0.91[ASN][1000 genomes]
rs2910706	0.91[ASN][1000 genomes]
rs2910707	0.92[ASN][1000 genomes]
rs2910797	0.92[ASN][1000 genomes]
rs2973045	0.90[ASN][1000 genomes]
rs2973046	0.91[ASN][1000 genomes]
rs2973047	0.92[ASN][1000 genomes]
rs60025605	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60262907	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67720228	0.91[ASN][1000 genomes]
rs7730024	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs884344	0.92[ASN][1000 genomes]
rs9283747	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9292674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37807000-37810400	Weak transcription	HSMM	muscle
2	chr5:37807000-37811800	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:37808200-37812800	Weak transcription	HSMMtube	muscle
4	chr5:37808600-37810400	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:37808800-37810400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:37808800-37813000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:37810000-37811800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:37810000-37812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:37810000-37812200	Enhancers	NH-A	brain
10	chr5:37810200-37810400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:37810200-37810400	Enhancers	Brain Hippocampus Middle	brain
12	chr5:37810200-37810400	Enhancers	Osteobl	bone
13	chr5:37810200-37810600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:37810200-37810800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:37810200-37810800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:37810200-37811000	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:37810200-37811200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:37810200-37811200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr5:37810200-37812400	Enhancers	Muscle Satellite Cultured Cells	--

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