Variant report

Variant	rs6747219
Chromosome Location	chr2:59013226-59013227
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10865309	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12475168	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12613375	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17049722	0.84[EUR][1000 genomes]
rs1796435	0.82[EUR][1000 genomes]
rs2540324	0.82[EUR][1000 genomes]
rs62144560	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6747219	PUS10	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59011200-59015200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:59011600-59015200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:59012400-59013400	Enhancers	K562	blood

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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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