Variant report

Variant	rs73893154
Chromosome Location	chr21:17648816-17648817
allele	C/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:7)

rs_ID	r²[population]
rs58558420	1.00[AMR][1000 genomes]
rs59959559	1.00[AMR][1000 genomes]
rs73892959	1.00[AFR][1000 genomes]
rs73893215	1.00[AMR][1000 genomes]
rs73893220	1.00[AMR][1000 genomes]
rs73893221	1.00[AMR][1000 genomes]
rs73893237	1.00[AMR][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	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
2	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
3	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17636400-17651600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17637400-17649200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:17642600-17652400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:17646800-17652000	Weak transcription	Ovary	ovary
6	chr21:17646800-17652000	Weak transcription	Psoas Muscle	Psoas
7	chr21:17648600-17649000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr21:17648600-17649400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:17648600-17649800	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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