Variant report

Variant	rs71418553
Chromosome Location	chr2:116069886-116069887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:116069793..116071338-chr2:116297492..116299171,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12988978	0.80[EUR][1000 genomes]
rs12990078	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13005522	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018318	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13018346	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027054	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17044243	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17044254	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17453124	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34168937	0.80[EUR][1000 genomes]
rs34195762	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34423273	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34777388	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34787934	0.80[EUR][1000 genomes]
rs34851935	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34911120	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938977	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35583738	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36000676	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71418547	0.89[EUR][1000 genomes]
rs71418550	0.80[EUR][1000 genomes]
rs71418551	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71418552	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71418557	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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	chr2:116068000-116083000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:116068400-116070800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:116068400-116072200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:116069000-116071800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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