Variant report

Variant	rs12982060
Chromosome Location	chr19:41401263-41401264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10424973	1.00[AFR][1000 genomes]
rs10521014	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668664	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11671041	1.00[AFR][1000 genomes]
rs11878463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880677	0.82[EUR][1000 genomes]
rs11880938	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974293	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981337	0.89[EUR][1000 genomes]
rs12984358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475084	0.87[EUR][1000 genomes]
rs34050311	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34981426	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs35809263	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71358943	0.86[EUR][1000 genomes]
rs71358947	1.00[AFR][1000 genomes]
rs71358948	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555357	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109507	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv3337314	chr19:41388910-41534583	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr19:41395800-41402000	Weak transcription	K562	blood
2	chr19:41401200-41402600	Enhancers	A549	lung

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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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