Variant report

Variant	rs713614
Chromosome Location	chr13:80421340-80421341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12429730	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12875666	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335281	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2027146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2027147	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2027148	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2152226	0.81[ASN][1000 genomes]
rs34928706	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4628842	0.86[AMR][1000 genomes]
rs4885669	0.83[ASN][1000 genomes]
rs4885670	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4885676	0.86[EUR][1000 genomes]
rs4885677	0.81[AMR][1000 genomes]
rs6563137	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs713615	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319612	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7333650	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7333880	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7338949	0.87[AMR][1000 genomes]
rs74099556	0.81[AMR][1000 genomes]
rs7982512	0.83[AMR][1000 genomes]
rs7983143	0.87[AMR][1000 genomes]
rs7984156	1.00[JPT][hapmap]
rs7990168	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7990447	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530975	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9530976	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530978	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9530979	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9530983	0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs9545235	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9545236	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9545242	0.83[AMR][1000 genomes]
rs9545246	0.83[AMR][1000 genomes]
rs9646080	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs970738	0.98[AMR][1000 genomes];0.97[EUR][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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900590	chr13:80342186-80421340	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1043768	chr13:80398379-80447095	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1048990	chr13:80419496-80456454	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv1044254	chr13:80419496-80457686	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80414400-80424000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:80420400-80422600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:80420400-80422800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:80420600-80423600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:80420800-80422000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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