Variant report

Variant	rs56064429
Chromosome Location	chr13:53885002-53885003
allele	C/T
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]
rs1342678	0.80[AMR][1000 genomes]
rs1443904	0.90[AMR][1000 genomes]
rs1443915	0.90[AMR][1000 genomes]
rs1550667	0.90[AMR][1000 genomes]
rs1596435	0.80[AMR][1000 genomes]
rs1838276	0.90[AMR][1000 genomes]
rs1857200	0.90[AMR][1000 genomes]
rs2587362	0.90[AMR][1000 genomes]
rs2797082	0.90[AMR][1000 genomes]
rs55694139	0.90[AMR][1000 genomes]
rs58282045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7325608	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73499026	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9568850	0.90[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	nsv1050969	chr13:53665927-54064861	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2756368	chr13:53824599-53923599	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53881800-53885600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:53884800-53886000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:53884800-53886400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:53885000-53885400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:53885000-53885400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:53885000-53885600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:53885000-53886000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr13:53885000-53886000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:53885000-53886400	Bivalent Enhancer	HUES48 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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