Variant report

Variant	rs57913591
Chromosome Location	chr21:45424589-45424590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11910604	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838459	1.00[EUR][1000 genomes]
rs2838463	1.00[EUR][1000 genomes]
rs2838465	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59957868	0.84[ASN][1000 genomes]
rs73906694	1.00[EUR][1000 genomes]
rs73906696	1.00[EUR][1000 genomes]
rs878132	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9680153	1.00[EUR][1000 genomes]
rs9976939	1.00[EUR][1000 genomes]
rs9978334	1.00[EUR][1000 genomes]
rs9984876	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45420600-45425400	Weak transcription	HSMM	muscle
2	chr21:45420800-45425200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:45421000-45425400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45421000-45425600	Weak transcription	HSMMtube	muscle
5	chr21:45421400-45430400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:45421400-45430600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:45421600-45431000	Weak transcription	Brain Angular Gyrus	brain
8	chr21:45421600-45431000	Weak transcription	Brain Substantia Nigra	brain
9	chr21:45421800-45426200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:45421800-45430200	Weak transcription	Brain Hippocampus Middle	brain
11	chr21:45422000-45425800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:45423400-45431000	Weak transcription	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
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