Variant report

Variant	rs28520053
Chromosome Location	chr8:124072397-124072398
allele	A/C
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:7)

rs_ID	r²[population]
rs10112234	1.00[AMR][1000 genomes]
rs28472858	1.00[AMR][1000 genomes]
rs28485492	1.00[AMR][1000 genomes]
rs28582857	1.00[AMR][1000 genomes]
rs28654188	1.00[AMR][1000 genomes]
rs28668142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34795458	1.00[AMR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124055800-124077600	Weak transcription	Thymus	Thymus
2	chr8:124070600-124073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:124070800-124073200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:124070800-124073200	Weak transcription	K562	blood
5	chr8:124070800-124077600	Weak transcription	Fetal Heart	heart
6	chr8:124070800-124077600	Weak transcription	A549	lung
7	chr8:124071000-124072800	Weak transcription	NH-A	brain
8	chr8:124071000-124073000	Weak transcription	HepG2	liver
9	chr8:124071600-124077600	Weak transcription	Osteobl	bone
10	chr8:124072200-124073000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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