Variant report

Variant	rs238981
Chromosome Location	chr21:17615685-17615686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs238946	0.81[ASN][1000 genomes]
rs238980	0.90[EUR][1000 genomes]
rs238984	0.90[EUR][1000 genomes]
rs238991	0.90[EUR][1000 genomes]
rs238992	0.90[EUR][1000 genomes]
rs2823677	0.80[ASN][1000 genomes]
rs2823678	0.80[ASN][1000 genomes]
rs2823679	0.80[ASN][1000 genomes]
rs2823682	0.82[EUR][1000 genomes]
rs2823683	0.90[EUR][1000 genomes]
rs2823684	0.99[ASN][1000 genomes]
rs2823691	0.81[ASN][1000 genomes]

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:17 , 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	chr21:17614400-17616000	Enhancers	Primary hematopoietic stem cells	blood
8	chr21:17614400-17616000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr21:17614400-17622400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:17614400-17622600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr21:17614600-17617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:17614800-17615800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:17614800-17615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:17614800-17616000	Enhancers	HUVEC	blood vessel
15	chr21:17615200-17616000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:17615400-17616000	Enhancers	Brain Substantia Nigra	brain
17	chr21:17615600-17616000	Enhancers	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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