Variant report

Variant	rs12616330
Chromosome Location	chr2:115956686-115956687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10204084	0.87[ASN][1000 genomes]
rs10221894	0.83[ASN][1000 genomes]
rs1040185	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10496482	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10864936	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11123286	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123287	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11123290	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11123291	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11675397	0.90[ASN][1000 genomes]
rs11693764	0.93[ASN][1000 genomes]
rs12463715	0.81[ASN][1000 genomes]
rs12472611	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13010082	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17355679	0.89[ASN][1000 genomes]
rs4257411	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4361132	0.82[AMR][1000 genomes]
rs4386327	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59259939	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62167281	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562666	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572788	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7593121	0.91[ASN][1000 genomes]
rs7593414	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9653426	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014713	chr2:115858427-116018055	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1001542	chr2:115920847-116082585	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv834339	chr2:115953298-116132979	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115948200-115964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:115954000-115957400	Weak transcription	Fetal Lung	lung
3	chr2:115954400-115957400	Weak transcription	Fetal Kidney	kidney
4	chr2:115954400-115957400	Weak transcription	Fetal Stomach	stomach

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