Variant report

Variant	rs17083589
Chromosome Location	chr4:54714766-54714767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1391764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1498831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17083604	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57221039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57537230	1.00[AMR][1000 genomes]
rs59962691	1.00[AMR][1000 genomes]
rs61293289	1.00[AMR][1000 genomes]
rs73143825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143861	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817034	1.00[AMR][1000 genomes]
rs73817119	1.00[AMR][1000 genomes]
rs73817163	1.00[AMR][1000 genomes]
rs73818151	1.00[AMR][1000 genomes]
rs73818152	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr4:54710600-54717800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:54711000-54725400	Weak transcription	Psoas Muscle	Psoas
3	chr4:54711200-54716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:54712000-54716200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:54712400-54719000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:54714000-54714800	Enhancers	HepG2	liver
7	chr4:54714200-54714800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:54714200-54715800	Enhancers	Fetal Kidney	kidney
9	chr4:54714200-54716800	Enhancers	Fetal Lung	lung
10	chr4:54714400-54717800	Weak transcription	Osteobl	bone
11	chr4:54714600-54714800	Enhancers	Fetal Stomach	stomach
12	chr4:54714600-54714800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:54714600-54716000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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