Variant report

Variant	rs72986095
Chromosome Location	chr3:54338623-54338624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55906507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57724087	1.00[AMR][1000 genomes]
rs58237311	1.00[AMR][1000 genomes]
rs58845270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59207127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59232971	1.00[AMR][1000 genomes]
rs72986056	1.00[AMR][1000 genomes]
rs72986091	0.94[AFR][1000 genomes]
rs72988009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841973	1.00[AMR][1000 genomes]
rs73841976	1.00[AMR][1000 genomes]
rs73841977	1.00[AMR][1000 genomes]
rs73841978	1.00[AMR][1000 genomes]
rs73841979	1.00[AMR][1000 genomes]
rs73841980	1.00[AMR][1000 genomes]
rs73841981	1.00[AMR][1000 genomes]
rs73841983	1.00[AMR][1000 genomes]
rs73841984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817328	chr3:54250314-54380438	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54332200-54343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54334000-54343200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:54336800-54340600	Weak transcription	Aorta	Aorta
4	chr3:54337600-54338800	Enhancers	Fetal Muscle Leg	muscle
5	chr3:54337600-54339800	Enhancers	Fetal Stomach	stomach
6	chr3:54337800-54338800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:54338000-54339800	Enhancers	Liver	Liver
8	chr3:54338000-54339800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr3:54338200-54338800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr3:54338200-54339000	Enhancers	Brain Germinal Matrix	brain
11	chr3:54338200-54339000	Enhancers	Brain Hippocampus Middle	brain
12	chr3:54338400-54343200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:54338400-54345400	Weak transcription	Fetal Lung	lung
14	chr3:54338600-54338800	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:54338600-54339600	Enhancers	Rectal Smooth Muscle	rectum

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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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