Variant report

Variant	rs1480355
Chromosome Location	chr3:51343305-51343306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12635282	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1383252	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1480357	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1480358	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1480363	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1480365	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1552072	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552073	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1904786	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2061951	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2355941	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2355942	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2883811	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34035394	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34251985	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4974093	0.82[EUR][1000 genomes]
rs4974095	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4974097	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4974109	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67086923	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6782946	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6800805	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7634514	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs922612	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9683267	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814041	0.87[AMR][1000 genomes]
rs9825454	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9855442	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9855454	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9860962	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9878100	0.91[AMR][1000 genomes];0.88[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	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1480355	TEX264	cis	Esophagus Muscularis	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51315400-51350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:51331000-51343600	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:51339800-51347200	Weak transcription	Brain Germinal Matrix	brain
4	chr3:51340000-51370800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:51340200-51343800	Weak transcription	Brain Substantia Nigra	brain
6	chr3:51341600-51347200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:51341600-51372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:51342000-51343400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:51342000-51348000	Weak transcription	Brain Angular Gyrus	brain
10	chr3:51342200-51347200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:51342200-51349400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:51342200-51352400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:51342200-51353600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:51342200-51355000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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