Variant report

Variant	rs1447488
Chromosome Location	chr2:205321371-205321372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205216295..205217937-chr2:205321013..205323112,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10084416	0.96[ASN][1000 genomes]
rs10490267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10932063	0.84[ASN][1000 genomes]
rs1156249	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11690070	0.84[ASN][1000 genomes]
rs12472876	0.89[ASN][1000 genomes]
rs12616166	0.98[ASN][1000 genomes]
rs12990859	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13010221	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13024043	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1374708	0.94[ASN][1000 genomes]
rs1374709	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1447490	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1447493	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1447495	0.89[ASN][1000 genomes]
rs1550909	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17637637	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34157021	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34368384	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35071164	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35207649	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4675457	0.96[ASN][1000 genomes]
rs71427747	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71427750	0.80[EUR][1000 genomes]
rs7602656	0.89[ASN][1000 genomes]
rs921163	0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap]
rs959032	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs959033	0.90[EUR][1000 genomes];0.89[ASN][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1447488	ALS2CR8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205320000-205323200	Weak transcription	Lung	lung

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