Variant report

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10734788	0.81[ASN][1000 genomes]
rs10771718	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771720	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771724	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843742	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843752	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843754	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050890	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050908	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12231562	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1506369	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1588005	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605238	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931337	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1042998	chr12:30549221-30583230	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30567400-30574000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:30571600-30574000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:30572400-30574000	Weak transcription	NHLF	lung
4	chr12:30573000-30575200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:30573200-30574200	Enhancers	HSMM	muscle
6	chr12:30573200-30574400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:30573200-30574400	Enhancers	NHEK	skin
8	chr12:30573400-30574000	Enhancers	Hela-S3	cervix
9	chr12:30573400-30574200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr12:30573400-30574200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:30573400-30574200	Enhancers	HUVEC	blood vessel
12	chr12:30573400-30574200	Enhancers	NHDF-Ad	bronchial
13	chr12:30573400-30574200	Enhancers	Osteobl	bone
14	chr12:30573400-30574400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:30573400-30574400	Enhancers	HMEC	breast
16	chr12:30573400-30574600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:30573600-30574000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:30573600-30574000	Flanking Active TSS	NH-A	brain
19	chr12:30573600-30574200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:30573600-30574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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