Variant report

Variant	rs58943042
Chromosome Location	chr8:130174489-130174490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12548124	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548167	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4566995	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981888	0.80[ASN][1000 genomes]
rs6982195	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7001827	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72609877	0.96[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	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891445	chr8:130152109-130224721	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130170200-130174600	ZNF genes & repeats	Dnd41	blood
2	chr8:130173800-130174800	Enhancers	HUVEC	blood vessel
3	chr8:130174000-130177200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:130174200-130174600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:130174200-130175400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:130174200-130176400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:130174400-130174800	Enhancers	Fetal Thymus	thymus

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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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