Variant report

Variant	rs7278687
Chromosome Location	chr21:16843661-16843662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2205584	1.00[EUR][1000 genomes]
rs2823401	1.00[EUR][1000 genomes]
rs2823409	1.00[EUR][1000 genomes]
rs2823410	1.00[EUR][1000 genomes]
rs28510398	1.00[EUR][1000 genomes]
rs28542389	1.00[EUR][1000 genomes]
rs58121414	1.00[EUR][1000 genomes]
rs6517555	1.00[EUR][1000 genomes]
rs7281070	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7510266	1.00[EUR][1000 genomes]
rs8128615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129950	1.00[EUR][1000 genomes]
rs9977671	1.00[EUR][1000 genomes]
rs9980143	1.00[EUR][1000 genomes]
rs9981034	1.00[EUR][1000 genomes]
rs9983961	1.00[EUR][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16841800-16844400	Weak transcription	HepG2	liver
2	chr21:16841800-16844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:16841800-16844800	Weak transcription	Psoas Muscle	Psoas
4	chr21:16843600-16843800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:16843600-16845600	Enhancers	Skeletal Muscle Male	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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