Variant report

Variant	rs34989254
Chromosome Location	chr5:108071299-108071300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11240983	0.88[EUR][1000 genomes]
rs11741158	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12152902	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12153447	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12153449	0.88[EUR][1000 genomes]
rs12153549	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12188386	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13154354	0.88[EUR][1000 genomes]
rs13169624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13184924	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34263420	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34505415	0.97[AMR][1000 genomes];1.00[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108064600-108071600	Weak transcription	Pancreas	Pancrea
2	chr5:108066000-108071400	Weak transcription	K562	blood
3	chr5:108066600-108082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:108067000-108071400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:108067400-108071600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:108071200-108071400	Enhancers	HUVEC	blood vessel

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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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