Variant report

Variant	rs28463025
Chromosome Location	chr21:17761488-17761489
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1449522	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs171267	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1964483	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2044734	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs240469	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs240471	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240476	0.98[ASN][1000 genomes]
rs240478	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs240479	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240482	0.82[EUR][1000 genomes];0.83[ASN][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:14 , 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	chr21:17752800-17763200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:17759400-17762000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:17760600-17762200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17760600-17762400	Enhancers	Ovary	ovary
7	chr21:17760800-17761600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:17760800-17761600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:17760800-17761600	Enhancers	Esophagus	oesophagus
10	chr21:17760800-17761600	Enhancers	Left Ventricle	heart
11	chr21:17760800-17762400	Enhancers	Placenta	Placenta
12	chr21:17761200-17761800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:17761400-17761600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:17761400-17761600	Enhancers	Right Atrium	heart

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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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