Variant report

Variant	rs519486
Chromosome Location	chr1:91043334-91043335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10922877	0.98[ASN][1000 genomes]
rs10922878	0.81[AFR][1000 genomes]
rs12048611	0.88[ASN][1000 genomes]
rs12406787	0.98[ASN][1000 genomes]
rs1336873	0.88[ASN][1000 genomes]
rs1336875	0.89[ASN][1000 genomes]
rs1361009	0.86[ASN][1000 genomes]
rs1361010	0.86[ASN][1000 genomes]
rs1418783	0.86[ASN][1000 genomes]
rs1538136	0.97[ASN][1000 genomes]
rs2152729	0.88[ASN][1000 genomes]
rs2152730	0.88[ASN][1000 genomes]
rs28488175	0.81[AFR][1000 genomes]
rs35314527	0.84[ASN][1000 genomes]
rs4306108	0.86[ASN][1000 genomes]
rs6667438	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867434	0.88[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	nsv870816	chr1:91018205-91141196	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs519486	ABCA4	cis	cerebellum	SCAN
rs519486	LRRC8B	cis	cerebellum	SCAN
rs519486	BARHL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91041000-91044000	Weak transcription	Dnd41	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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