Variant report

Variant	rs2924715
Chromosome Location	chr8:4848383-4848384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10102858	0.92[ASN][1000 genomes]
rs17071982	1.00[ASN][1000 genomes]
rs28729363	0.92[ASN][1000 genomes]
rs2924717	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924730	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2977728	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2977729	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911307	1.00[ASN][1000 genomes]
rs62489453	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62489455	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6999675	0.85[ASN][1000 genomes]
rs7013059	1.00[ASN][1000 genomes]
rs73497791	1.00[ASN][1000 genomes]
rs73497797	1.00[ASN][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	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:4847200-4851400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:4848000-4848600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr8:4848200-4848400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:4848200-4848400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:4848200-4848600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:4848200-4848600	Enhancers	Brain Angular Gyrus	brain
7	chr8:4848200-4848600	Bivalent Enhancer	Brain Cingulate Gyrus	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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