Variant report

Variant	rs286593
Chromosome Location	chr5:154375465-154375466
allele	C/T
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]
rs11740159	0.87[ASN][1000 genomes]
rs11740202	0.85[ASN][1000 genomes]
rs286592	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs286597	0.84[ASN][1000 genomes]
rs286598	0.83[ASN][1000 genomes]
rs286601	0.90[CHB][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap]
rs286619	0.84[JPT][hapmap]
rs286621	0.95[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.82[ASN][1000 genomes]
rs450699	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6580126	0.90[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	nsv968117	chr5:154371654-154381973	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
2	nsv883058	chr5:154375465-154432580	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs286593	GLRA1	cis	parietal	SCAN
rs286593	MFAP3	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154373200-154376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:154373200-154376800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:154374600-154375600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr5:154374600-154375600	Enhancers	HepG2	liver
5	chr5:154374600-154375800	Enhancers	Brain Hippocampus Middle	brain
6	chr5:154375400-154377800	Enhancers	HUVEC	blood vessel

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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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