Variant report

Variant	rs73243420
Chromosome Location	chr8:65639324-65639325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4327887	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241699	1.00[AMR][1000 genomes]
rs73242281	0.86[AFR][1000 genomes]
rs73243411	0.84[AFR][1000 genomes]
rs73243418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73243431	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7828250	0.82[AFR][1000 genomes]
rs7844432	0.86[AFR][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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65635000-65643000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:65635800-65642200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:65637400-65639600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:65638000-65640800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:65638200-65641400	Weak transcription	Osteobl	bone
6	chr8:65638400-65639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:65638400-65641800	Weak transcription	Aorta	Aorta
8	chr8:65638400-65641800	Weak transcription	HSMMtube	muscle
9	chr8:65638400-65643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:65638800-65639400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:65639200-65640400	Weak transcription	HSMM	muscle
12	chr8:65639200-65641000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:65639200-65641800	Weak transcription	NH-A	brain

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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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