Variant report

Variant	rs320385
Chromosome Location	chr1:213692154-213692155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1391870	0.86[EUR][1000 genomes]
rs1532535	0.92[EUR][1000 genomes]
rs17020842	1.00[CHB][hapmap]
rs2501457	0.86[EUR][1000 genomes]
rs320386	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs320388	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs320393	0.86[EUR][1000 genomes]
rs320422	0.94[EUR][1000 genomes]
rs320424	0.94[EUR][1000 genomes]
rs320426	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs383945	0.94[EUR][1000 genomes]
rs393105	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs401923	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4073190	0.86[EUR][1000 genomes]
rs410108	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs430997	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450826	0.92[CEU][hapmap]
rs6682832	0.83[EUR][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	nsv832525	chr1:213580476-213782815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213691400-213693400	Enhancers	HepG2	liver
2	chr1:213692000-213694600	Enhancers	Fetal Intestine Small	intestine

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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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