Variant report

Variant	rs1917366
Chromosome Location	chr7:124284486-124284487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10258261	0.86[EUR][1000 genomes]
rs10262687	0.87[EUR][1000 genomes]
rs11496160	0.87[EUR][1000 genomes]
rs11496161	0.87[EUR][1000 genomes]
rs11514887	0.87[EUR][1000 genomes]
rs11770045	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11972367	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11975826	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11977373	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1357795	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1404412	0.87[ASN][1000 genomes]
rs1524762	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608705	0.86[EUR][1000 genomes]
rs1880451	0.81[EUR][1000 genomes]
rs1917355	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1917360	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1917363	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1917365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030722	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2049437	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2091217	0.87[EUR][1000 genomes]
rs2091218	0.87[EUR][1000 genomes]
rs2402737	0.87[EUR][1000 genomes]
rs28710176	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729091	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28830928	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2896356	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56134204	0.83[AMR][1000 genomes]
rs6972148	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73221450	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73221460	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73221461	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs884805	0.92[EUR][1000 genomes];0.83[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv831118	chr7:124172267-124347527	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1917366	TPM2	trans	lymphoblastoid	seeQTL
rs1917366	PTPRZ1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124271400-124287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:124274400-124285800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:124280400-124285600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:124283000-124284600	Enhancers	Fetal Lung	lung
5	chr7:124283400-124287200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:124283800-124284600	Enhancers	Brain Hippocampus Middle	brain
7	chr7:124284200-124284800	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:124284200-124285200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:124284400-124284600	Enhancers	Brain Anterior Caudate	brain

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