Variant report

Variant	rs467567
Chromosome Location	chr21:40248440-40248441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11910555	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12482288	0.82[AMR][1000 genomes]
rs13050477	0.85[CEU][hapmap]
rs2094873	0.85[CEU][hapmap]
rs2150409	0.82[GIH][hapmap]
rs2210265	0.82[GIH][hapmap]
rs2410064	0.81[CEU][hapmap]
rs2836718	0.85[CEU][hapmap];0.87[MEX][hapmap]
rs2836723	0.82[GIH][hapmap]
rs2836735	0.85[CEU][hapmap];0.92[MEX][hapmap]
rs2836737	0.85[CEU][hapmap];0.84[MEX][hapmap]
rs467471	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469063	0.98[ASN][1000 genomes]
rs9680143	0.85[CEU][hapmap]
rs992242	0.82[GIH][hapmap]

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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv587478	chr21:40243459-40275033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40246000-40250000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr21:40246600-40248600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr21:40246600-40248800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr21:40246600-40248800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40246800-40249000	Enhancers	Dnd41	blood
6	chr21:40247000-40248600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:40247000-40249000	Enhancers	Fetal Thymus	thymus
8	chr21:40247200-40248800	Enhancers	Thymus	Thymus
9	chr21:40247600-40248600	Enhancers	Primary hematopoietic stem cells	blood
10	chr21:40247800-40248600	Weak transcription	Spleen	Spleen
11	chr21:40247800-40250200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:40247800-40250400	Weak transcription	HMEC	breast
13	chr21:40247800-40259400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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