Variant report

Variant	rs1481058
Chromosome Location	chr8:39947141-39947142
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12682158	0.82[CHB][hapmap]
rs1383604	0.91[EUR][1000 genomes]
rs1471558	0.81[EUR][1000 genomes]
rs1471560	0.86[CHB][hapmap]
rs1481051	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1481059	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1481065	0.90[EUR][1000 genomes]
rs1481066	0.90[EUR][1000 genomes]
rs1600691	0.91[EUR][1000 genomes]
rs1842538	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1904909	0.90[EUR][1000 genomes]
rs2127883	0.90[EUR][1000 genomes]
rs2929091	0.91[EUR][1000 genomes]
rs2929094	0.90[EUR][1000 genomes]
rs2929097	0.91[EUR][1000 genomes]
rs2929100	0.90[EUR][1000 genomes]
rs2955862	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2955923	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955928	0.90[EUR][1000 genomes]
rs2955930	0.90[EUR][1000 genomes]
rs2981133	0.89[EUR][1000 genomes]
rs2981135	0.90[EUR][1000 genomes]
rs2981137	0.89[EUR][1000 genomes]
rs2981139	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2981140	0.90[EUR][1000 genomes]
rs2981191	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981192	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2981194	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2981195	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7010922	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7824665	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7827065	0.94[EUR][1000 genomes]
rs7828920	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7829590	0.93[EUR][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1034355	chr8:39942179-39961432	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1481058	STAR	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39940000-39950000	Weak transcription	A549	lung
2	chr8:39944000-39950800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:39944200-39949800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:39944600-39948200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:39944600-39948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:39944600-39950200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:39945200-39948200	Weak transcription	HepG2	liver
8	chr8:39946600-39948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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