Variant report

Variant	rs60598285
Chromosome Location	chr8:113689103-113689104
allele	A/G
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:16)

rs_ID	r²[population]
rs11985496	1.00[AFR][1000 genomes]
rs11993017	0.91[AFR][1000 genomes]
rs11995039	0.91[AFR][1000 genomes]
rs16883975	1.00[AFR][1000 genomes]
rs57873127	0.91[AFR][1000 genomes]
rs58296437	0.91[AFR][1000 genomes]
rs59464748	0.91[AFR][1000 genomes]
rs61428202	0.91[AFR][1000 genomes]
rs73342518	1.00[AMR][1000 genomes]
rs73342525	1.00[AMR][1000 genomes]
rs73342539	1.00[AMR][1000 genomes]
rs73342544	1.00[AMR][1000 genomes]
rs73700802	0.91[AFR][1000 genomes]
rs73702203	0.91[AFR][1000 genomes]
rs73702223	0.91[AFR][1000 genomes]
rs73702225	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113684600-113690200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:113687000-113690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:113687000-113691400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:113687000-113699200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:113687800-113689200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:113688200-113689200	Weak transcription	Cortex 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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