Variant report

Variant	rs28493748
Chromosome Location	chr8:130230624-130230625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10088168	1.00[AMR][1000 genomes]
rs10093139	1.00[AMR][1000 genomes]
rs10094829	1.00[AMR][1000 genomes]
rs10111678	1.00[AMR][1000 genomes]
rs16904063	1.00[AMR][1000 genomes]
rs28402714	1.00[AMR][1000 genomes]
rs28407009	1.00[AMR][1000 genomes]
rs28408972	1.00[AMR][1000 genomes]
rs28459879	1.00[AMR][1000 genomes]
rs28462094	1.00[AMR][1000 genomes]
rs28485605	1.00[AMR][1000 genomes]
rs28515874	1.00[AMR][1000 genomes]
rs28534900	1.00[AMR][1000 genomes]
rs28613417	1.00[AMR][1000 genomes]
rs28637039	1.00[AMR][1000 genomes]
rs28717384	1.00[AMR][1000 genomes]
rs28809896	1.00[AMR][1000 genomes]
rs28847054	1.00[AMR][1000 genomes]
rs73390066	1.00[AMR][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	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
2	nsv612229	chr8:130213203-130252229	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130208200-130241600	Weak transcription	Thymus	Thymus
2	chr8:130227000-130233600	Genic enhancers	Dnd41	blood
3	chr8:130230400-130231000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr8:130230600-130231200	Strong transcription	Fetal Thymus	thymus

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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