Variant report

Variant	rs2399752
Chromosome Location	chr5:5064439-5064440
allele	A/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]
rs10041066	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1319764	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13435958	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13436478	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16874655	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16874657	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16874675	0.87[AFR][1000 genomes]
rs16874677	0.87[AFR][1000 genomes]
rs16874683	1.00[AMR][1000 genomes]
rs2134146	0.91[AMR][1000 genomes]
rs58552613	1.00[AMR][1000 genomes]
rs58567957	0.81[AMR][1000 genomes]
rs59511253	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61119570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9313096	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9313097	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9313098	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9313099	0.86[AFR][1000 genomes]
rs995192	1.00[AMR][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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5051200-5066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:5062800-5065600	Enhancers	HepG2	liver
3	chr5:5063400-5065800	Weak transcription	Pancreas	Pancrea
4	chr5:5064400-5065000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:5064400-5065000	Enhancers	Fetal Kidney	kidney
6	chr5:5064400-5066200	Weak transcription	Adipose Nuclei	Adipose
7	chr5:5064400-5066200	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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