Variant report

Variant	rs12354723
Chromosome Location	chr10:53694400-53694401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10823903	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11000191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11000255	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11000285	0.81[ASN][1000 genomes]
rs12356995	0.85[AMR][1000 genomes]
rs17638883	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4604821	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61847480	0.91[ASN][1000 genomes]
rs7096762	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv948009	chr10:53692468-53694473	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53680200-53694600	Weak transcription	Aorta	Aorta
2	chr10:53688400-53694400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:53692600-53694400	Weak transcription	Left Ventricle	heart
4	chr10:53692600-53697600	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:53693000-53695600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:53693200-53697000	Weak transcription	Fetal Lung	lung
7	chr10:53694200-53694400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:53694200-53694600	Enhancers	Right Atrium	heart
9	chr10:53694200-53695400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:53694400-53694800	Enhancers	Left Ventricle	heart
11	chr10:53694400-53696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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