Variant report

Variant	rs58133996
Chromosome Location	chr6:118475566-118475567
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2484143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2484147	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501514	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2516065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2516066	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2516067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2516068	1.00[AMR][1000 genomes]
rs4492222	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56974574	1.00[AMR][1000 genomes]
rs58870459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59525222	1.00[AMR][1000 genomes]
rs59568380	1.00[AMR][1000 genomes]
rs60972925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6569000	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6904369	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6938511	1.00[AMR][1000 genomes]
rs71543241	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73766441	1.00[AMR][1000 genomes]
rs73766442	1.00[AMR][1000 genomes]
rs73766444	0.83[AMR][1000 genomes]
rs7762210	1.00[AMR][1000 genomes]
rs7766053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9374714	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9387556	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9398482	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9398483	0.90[AFR][1000 genomes];0.83[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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv428153	chr6:118430517-118586974	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1030089	chr6:118436482-118604516	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538427	chr6:118436482-118604516	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 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	chr6:118468000-118485000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:118471200-118476400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:118475200-118475600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:118475200-118475600	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr6:118475200-118475800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:118475400-118477000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:118475400-118478400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	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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