Variant report

Variant	rs240478
Chromosome Location	chr21:17763404-17763405
allele	C/T
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:10)

rs_ID	r²[population]
rs1449522	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs171267	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1964483	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2044734	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240469	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240471	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs240476	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240479	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs240482	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28463025	0.83[EUR][1000 genomes];0.98[ASN][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	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
4	nsv913417	chr21:17762340-17777827	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription	lncRNA	4 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	chr21:17735800-17767200	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:17745200-17764000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17761600-17766600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:17761600-17780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:17761800-17763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:17762000-17775000	Weak transcription	Brain Anterior Caudate	brain
7	chr21:17762200-17764200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:17762400-17775000	Weak transcription	Ovary	ovary
9	chr21:17763200-17764600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:17763200-17765000	Weak transcription	Brain Germinal Matrix	brain
11	chr21:17763200-17768800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr21:17763400-17763800	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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