Variant report

Variant	rs239079
Chromosome Location	chr21:17598828-17598829
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11911590	0.83[AMR][1000 genomes]
rs16994680	0.83[AMR][1000 genomes]
rs187018	0.83[AMR][1000 genomes]
rs239076	0.83[AMR][1000 genomes]
rs57049577	0.83[AMR][1000 genomes]
rs9974308	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
2	chr21:17585000-17612200	Weak transcription	Adipose Nuclei	Adipose
3	chr21:17585400-17604400	Weak transcription	Psoas Muscle	Psoas
4	chr21:17588600-17600600	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:17593000-17599000	Weak transcription	Brain Anterior Caudate	brain
6	chr21:17595800-17599200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:17598000-17599400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:17598000-17622200	Weak transcription	Ovary	ovary
9	chr21:17598000-17622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17598200-17600000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:17598200-17604200	Weak transcription	Liver	Liver
12	chr21:17598600-17603000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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