Variant report

Variant	rs2823197
Chromosome Location	chr21:16652529-16652530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1111348	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1111349	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11701699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304524	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823195	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2823202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4817784	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128057	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128542	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9305576	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969146	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823197	USP25	cis	normal skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16636200-16653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:16649000-16654400	Weak transcription	Placenta	Placenta
3	chr21:16649000-16655200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:16651400-16653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:16651400-16653200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:16651600-16652600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr21:16651600-16653000	Enhancers	HMEC	breast
8	chr21:16651800-16652600	Enhancers	NHEK	skin
9	chr21:16651800-16653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:16652000-16652600	Enhancers	HSMM	muscle
11	chr21:16652000-16653000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:16652000-16653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:16652400-16652600	Enhancers	Primary hematopoietic stem cells	blood

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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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