Variant report

Variant	rs34251725
Chromosome Location	chr8:20453685-20453686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17092805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092813	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092820	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17420595	1.00[ASN][1000 genomes]
rs17420602	1.00[ASN][1000 genomes]
rs17492491	0.83[ASN][1000 genomes]
rs1871660	0.87[EUR][1000 genomes]
rs2410654	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35268784	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60455912	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003868	0.81[EUR][1000 genomes]
rs7007931	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011434	1.00[ASN][1000 genomes]
rs73626732	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73626736	1.00[ASN][1000 genomes]
rs7822040	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846105	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916454	chr8:20342959-20531705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:20445000-20455600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:20450200-20456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:20452400-20454200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:20453000-20454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:20453000-20454200	Enhancers	Fetal Stomach	stomach
6	chr8:20453000-20455200	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:20453200-20453800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:20453400-20453800	Enhancers	Liver	Liver
9	chr8:20453400-20453800	Enhancers	Fetal Heart	heart
10	chr8:20453400-20454000	Enhancers	HSMMtube	muscle
11	chr8:20453400-20454200	Enhancers	Spleen	Spleen
12	chr8:20453600-20454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:20453600-20455600	Weak transcription	Fetal Brain Female	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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