Variant report

Variant	rs64262
Chromosome Location	chr13:53353041-53353042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs235784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235785	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs377385	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs402583	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs403759	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs450836	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs450898	0.90[ASN][1000 genomes]
rs459664	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677790	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9316586	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs64262	KCNRG	cis	parietal	SCAN
rs64262	USP50	trans	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53352200-53354200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:53352800-53354200	Enhancers	Brain Substantia Nigra	brain
3	chr13:53352800-53354400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:53352800-53355400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:53353000-53353200	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr13:53353000-53353800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:53353000-53353800	Enhancers	Fetal Brain Male	brain
8	chr13:53353000-53354000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:53353000-53354000	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:53353000-53354000	Enhancers	Brain Inferior Temporal Lobe	brain

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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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