Variant report

Variant	rs433880
Chromosome Location	chr20:14462069-14462070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10485774	0.96[ASN][1000 genomes]
rs11698487	0.95[ASN][1000 genomes]
rs13042122	0.99[ASN][1000 genomes]
rs2064808	0.99[ASN][1000 genomes]
rs391759	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs416534	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs445417	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074733	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074737	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074738	0.97[ASN][1000 genomes]
rs6074740	0.96[ASN][1000 genomes]
rs6074741	0.96[ASN][1000 genomes]
rs6079428	0.87[ASN][1000 genomes]
rs6079434	0.97[ASN][1000 genomes]
rs6079438	0.99[ASN][1000 genomes]
rs6079439	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6079446	0.92[ASN][1000 genomes]
rs6079461	0.93[ASN][1000 genomes]
rs6110290	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6110293	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6131581	0.97[ASN][1000 genomes]
rs6131584	0.99[ASN][1000 genomes]
rs6131587	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6135146	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6135147	0.97[ASN][1000 genomes]
rs6135153	0.87[ASN][1000 genomes]
rs6135154	0.87[ASN][1000 genomes]
rs6135155	0.93[ASN][1000 genomes]
rs8122234	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs913004	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1064721	chr20:14384931-14648223	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv833926	chr20:14410153-14572336	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv585442	chr20:14420556-14485947	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1065426	chr20:14426642-14478256	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1059770	chr20:14432394-14549781	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv544187	chr20:14432394-14549781	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv529577	chr20:14434373-14799157	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv965933	chr20:14438430-14464613	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	nsv524145	chr20:14455497-14466618	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14457800-14462200	Weak transcription	HSMM	muscle
2	chr20:14458000-14462200	Weak transcription	NHEK	skin
3	chr20:14458000-14462200	Weak transcription	Osteobl	bone
4	chr20:14458800-14462200	Weak transcription	NHDF-Ad	bronchial
5	chr20:14459000-14462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:14459400-14462200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:14460800-14463200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:14460800-14477600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:14461800-14462600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:14461800-14463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:14462000-14462800	Enhancers	HUVEC	blood vessel
12	chr20:14462000-14463600	Enhancers	Muscle Satellite Cultured Cells	--

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