Variant report

Variant	rs512790
Chromosome Location	chr6:72258478-72258479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1471854	0.85[AFR][1000 genomes]
rs1486598	0.85[AFR][1000 genomes]
rs1486599	0.85[AFR][1000 genomes]
rs1486600	0.85[AFR][1000 genomes]
rs1486601	0.85[AFR][1000 genomes]
rs1486602	0.85[AFR][1000 genomes]
rs1486603	0.85[AFR][1000 genomes]
rs1486604	0.85[AFR][1000 genomes]
rs199643	0.85[AFR][1000 genomes]
rs2050261	0.85[AFR][1000 genomes]
rs2210630	0.85[AFR][1000 genomes]
rs4529262	0.85[AFR][1000 genomes]
rs6453552	0.85[AFR][1000 genomes]
rs6924396	0.85[AFR][1000 genomes]
rs6927854	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv830685	chr6:72244007-72410757	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3438952	chr6:72257531-72262329	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72256200-72261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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