Variant report

Variant	rs59398300
Chromosome Location	chr5:88507870-88507871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55763742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55962744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56144146	1.00[AMR][1000 genomes]
rs56166481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58741262	1.00[AMR][1000 genomes]
rs59784242	1.00[AMR][1000 genomes]
rs6452822	1.00[AMR][1000 genomes]
rs73770475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73770478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73770501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772114	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772153	1.00[AMR][1000 genomes]
rs73772160	1.00[AMR][1000 genomes]
rs73772161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7713191	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	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv532160	chr5:88150666-88564477	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88501200-88510800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:88507000-88508400	Enhancers	NHDF-Ad	bronchial
3	chr5:88507000-88508400	Enhancers	Osteobl	bone
4	chr5:88507200-88508200	Enhancers	HSMMtube	muscle
5	chr5:88507200-88508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:88507200-88508400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:88507200-88508400	Enhancers	HSMM	muscle
8	chr5:88507200-88508400	Enhancers	NH-A	brain
9	chr5:88507200-88508600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:88507200-88510000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:88507400-88508200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr5:88507400-88508200	Enhancers	HMEC	breast
13	chr5:88507600-88508400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:88507800-88508000	Enhancers	Stomach Smooth Muscle	stomach

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

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