Variant report

Variant	rs12739244
Chromosome Location	chr1:76447896-76447897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1251534	0.84[EUR][1000 genomes]
rs12726486	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12727287	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12731410	0.92[EUR][1000 genomes]
rs12732472	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12749266	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1612901	0.97[EUR][1000 genomes]
rs34218840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34812705	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34898565	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35970385	0.95[EUR][1000 genomes]
rs56403434	1.00[EUR][1000 genomes]
rs58068229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71656853	1.00[AFR][1000 genomes]
rs71656867	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71656870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089674	0.88[AMR][1000 genomes];1.00[EUR][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	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:76447600-76448800	Enhancers	GM12878-XiMat	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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