Variant report

Variant	rs59574854
Chromosome Location	chr21:17839956-17839957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10470096	1.00[EUR][1000 genomes]
rs10470198	1.00[EUR][1000 genomes]
rs10470199	1.00[EUR][1000 genomes]
rs13433398	1.00[EUR][1000 genomes]
rs13433444	1.00[EUR][1000 genomes]
rs28415058	1.00[EUR][1000 genomes]
rs28608983	1.00[EUR][1000 genomes]
rs28731061	1.00[AFR][1000 genomes]
rs28858813	1.00[EUR][1000 genomes]
rs55950070	1.00[AFR][1000 genomes]
rs57454141	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58225448	1.00[EUR][1000 genomes]
rs58236716	1.00[EUR][1000 genomes]
rs59656923	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7280831	1.00[EUR][1000 genomes]
rs73891588	1.00[EUR][1000 genomes]
rs73891591	1.00[EUR][1000 genomes]
rs73891592	1.00[EUR][1000 genomes]
rs73893713	1.00[EUR][1000 genomes]
rs73893743	1.00[EUR][1000 genomes]
rs9305766	1.00[EUR][1000 genomes]
rs9305767	1.00[EUR][1000 genomes]
rs9305768	1.00[EUR][1000 genomes]
rs9305769	1.00[EUR][1000 genomes]
rs9974519	1.00[EUR][1000 genomes]
rs9975640	1.00[EUR][1000 genomes]
rs9976077	1.00[EUR][1000 genomes]
rs9978828	1.00[EUR][1000 genomes]
rs9979222	1.00[EUR][1000 genomes]
rs9979904	1.00[EUR][1000 genomes]
rs9981465	1.00[EUR][1000 genomes]
rs9981699	1.00[EUR][1000 genomes]
rs9983223	1.00[EUR][1000 genomes]
rs9983295	1.00[EUR][1000 genomes]
rs9983466	1.00[EUR][1000 genomes]
rs9984183	1.00[EUR][1000 genomes]
rs9984263	1.00[EUR][1000 genomes]
rs9984788	1.00[EUR][1000 genomes]
rs9985004	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
2	chr21:17830200-17842200	Weak transcription	Psoas Muscle	Psoas
3	chr21:17830400-17845600	Weak transcription	Right Atrium	heart
4	chr21:17835400-17846400	Weak transcription	Left Ventricle	heart
5	chr21:17836400-17846200	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:17836800-17848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr21:17836800-17848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:17837000-17840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:17837400-17848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:17838000-17846200	Weak transcription	Ovary	ovary
11	chr21:17838000-17850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:17839200-17840400	Enhancers	HUVEC	blood vessel
13	chr21:17839200-17841000	Enhancers	Osteobl	bone
14	chr21:17839200-17841400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:17839400-17843200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:17839600-17841000	Enhancers	Hela-S3	cervix
17	chr21:17839800-17840400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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