Variant report

Variant	rs73385508
Chromosome Location	chr8:130313929-130313930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16904020	0.95[AFR][1000 genomes]
rs16904021	0.95[AFR][1000 genomes]
rs16904024	0.95[AFR][1000 genomes]
rs56683575	1.00[AFR][1000 genomes]
rs57828019	1.00[AFR][1000 genomes]
rs73383531	0.94[AFR][1000 genomes]
rs73383539	0.94[AFR][1000 genomes]
rs73383548	0.95[AFR][1000 genomes]
rs73383550	0.95[AFR][1000 genomes]
rs73383577	0.95[AFR][1000 genomes]
rs73383583	1.00[AFR][1000 genomes]
rs73383590	1.00[AFR][1000 genomes]
rs73383592	1.00[AFR][1000 genomes]
rs73383596	1.00[AFR][1000 genomes]
rs73385507	0.85[AFR][1000 genomes]
rs73385522	1.00[AFR][1000 genomes]
rs73385524	1.00[AFR][1000 genomes]
rs73390023	0.84[AFR][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	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	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	chr8:130308800-130315200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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