Variant report

Variant	rs1597694
Chromosome Location	chr6:56868747-56868748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1007417	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016048	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12154043	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1451709	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1562908	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16888268	1.00[ASN][1000 genomes]
rs17685356	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758663	0.99[ASN][1000 genomes]
rs1839837	0.99[ASN][1000 genomes]
rs2006930	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008698	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2122958	0.91[EUR][1000 genomes]
rs2167460	0.84[EUR][1000 genomes]
rs2306011	0.96[ASN][1000 genomes]
rs2397227	0.81[EUR][1000 genomes]
rs28498151	0.96[ASN][1000 genomes]
rs34589109	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34703235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34896907	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35553446	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57994994	0.97[ASN][1000 genomes]
rs58099889	1.00[ASN][1000 genomes]
rs59106338	0.96[ASN][1000 genomes]
rs60401134	1.00[ASN][1000 genomes]
rs62417384	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62417385	0.99[ASN][1000 genomes]
rs62417410	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901192	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6901660	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915492	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924882	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925107	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6935636	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720885	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7741507	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7760435	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296857	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9296859	0.84[EUR][1000 genomes]
rs9349842	0.87[ASN][1000 genomes]
rs9357934	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9367700	0.99[ASN][1000 genomes]
rs9367701	0.99[ASN][1000 genomes]
rs9367702	0.99[ASN][1000 genomes]
rs9370550	0.99[ASN][1000 genomes]
rs9370552	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370553	1.00[ASN][1000 genomes]
rs9370554	0.96[ASN][1000 genomes]
rs9382669	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382670	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382672	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9382673	0.99[ASN][1000 genomes]
rs9382674	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382675	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382676	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9396238	0.93[ASN][1000 genomes]
rs9396240	0.99[ASN][1000 genomes]
rs9396245	0.99[ASN][1000 genomes]
rs9396246	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9396249	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396250	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9396251	0.96[ASN][1000 genomes]
rs9396253	0.84[EUR][1000 genomes]
rs9464411	0.99[ASN][1000 genomes]
rs9464412	0.99[ASN][1000 genomes]
rs9464413	0.99[ASN][1000 genomes]
rs9475757	0.99[ASN][1000 genomes]
rs9475758	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475760	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475761	0.94[ASN][1000 genomes]
rs9475762	0.99[ASN][1000 genomes]
rs9475763	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1597694	BEND6	cis	Esophagus Mucosa	GTEx
rs1597694	BEND6	cis	Thyroid	GTEx
rs1597694	BEND6	cis	Artery Tibial	GTEx
rs1597694	C6orf65	cis	multi-tissue	Pritchard
rs1597694	BEND6	cis	Esophagus Muscularis	GTEx
rs1597694	BEND6	cis	lung	GTEx
rs1597694	BEND6	cis	Heart Left Ventricle	GTEx
rs1597694	BEND6	cis	Muscle Skeletal	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56858600-56889400	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:56864400-56877800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:56864600-56869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:56864600-56877600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:56864600-56877800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:56864600-56890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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