Variant report

Variant	rs34593046
Chromosome Location	chr1:170419396-170419397
allele	A/G
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:33)

rs_ID	r²[population]
rs10919407	0.90[ASN][1000 genomes]
rs10919422	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11583564	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11588124	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11589240	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11589376	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11590710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806866	0.86[ASN][1000 genomes]
rs12729774	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12735952	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12737862	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12747498	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751882	0.90[ASN][1000 genomes]
rs12755330	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16863369	0.86[ASN][1000 genomes]
rs1855220	0.86[ASN][1000 genomes]
rs34597697	0.90[ASN][1000 genomes]
rs34621734	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35299255	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35329498	0.86[ASN][1000 genomes]
rs35564609	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35581791	0.85[ASN][1000 genomes]
rs4488075	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61824349	0.86[ASN][1000 genomes]
rs61824356	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824357	0.86[ASN][1000 genomes]
rs6427248	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6427249	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6668898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67243697	0.86[ASN][1000 genomes]
rs72707653	0.89[EUR][1000 genomes]
rs7515690	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34593046	GORAB	cis	Artery Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170415400-170430600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:170417800-170419400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:170417800-170427400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:170419000-170419400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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