Variant report

Variant	rs73086050
Chromosome Location	chr1:215431603-215431604
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17024523	1.00[AMR][1000 genomes]
rs56237556	1.00[AMR][1000 genomes]
rs60293336	1.00[AMR][1000 genomes]
rs73086005	1.00[AMR][1000 genomes]
rs73086008	1.00[AMR][1000 genomes]
rs73086014	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086019	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088077	1.00[AMR][1000 genomes]
rs73091972	1.00[AMR][1000 genomes]
rs73091991	1.00[AMR][1000 genomes]
rs73091995	1.00[AMR][1000 genomes]
rs74140947	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	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
2	nsv873170	chr1:215367248-215440975	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215429000-215431800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:215429200-215432800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:215430000-215434000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:215430400-215432800	Enhancers	Fetal Lung	lung
5	chr1:215431600-215432000	Enhancers	hESC Derived CD184+ Endoderm 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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