Variant report

Variant	rs72680416
Chromosome Location	chr1:69274523-69274524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72678310	0.90[EUR][1000 genomes]
rs72678330	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72682230	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72682250	1.00[AMR][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	nsv527722	chr1:69212053-69323222	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69273800-69275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:69273800-69275000	Enhancers	Fetal Lung	lung
3	chr1:69273800-69275400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:69274000-69274600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:69274000-69274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:69274200-69274800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:69274200-69278200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:69274400-69279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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