Variant report

Variant	rs2692681
Chromosome Location	chr3:133595618-133595619
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]
rs1525886	0.82[ASN][1000 genomes]
rs1608904	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1917780	0.82[ASN][1000 genomes]
rs1949881	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2692676	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2692677	0.88[JPT][hapmap]
rs2692678	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2692683	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2715610	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2715618	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715633	0.82[ASN][1000 genomes]
rs9852801	0.86[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	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2692681	PPP2R3A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133590600-133606600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:133591400-133598200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:133592000-133602000	Weak transcription	Brain Angular Gyrus	brain
4	chr3:133592200-133596200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:133592400-133598400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:133592400-133602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:133592400-133605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:133594800-133595800	Weak transcription	K562	blood
9	chr3:133595200-133596000	Weak transcription	Brain Anterior Caudate	brain

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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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