Variant report

Variant	rs238993
Chromosome Location	chr21:17618519-17618520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs171188	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238980	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238984	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238988	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238990	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238991	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238992	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2823683	1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs9978348	1.00[CHD][hapmap]

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	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
2	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
2	chr21:17598000-17622200	Weak transcription	Ovary	ovary
3	chr21:17598000-17622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17606200-17622200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:17612600-17618800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:17614000-17620600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr21:17614400-17622400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17614400-17622600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:17616000-17621800	Weak transcription	Brain Substantia Nigra	brain
10	chr21:17617400-17622000	ZNF genes & repeats	H9 Derived Neuronal Progenitor 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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