Variant report

Variant	rs34027274
Chromosome Location	chr6:56848687-56848688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56848477..56850650-chr6:56853279..56856023,2	K562	blood:
2	chr6:56848179..56849829-chr6:56875692..56877959,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1020548	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1044670	0.90[AMR][1000 genomes]
rs13193465	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13193800	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13195825	0.93[AFR][1000 genomes]
rs13198484	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13203600	0.93[AFR][1000 genomes]
rs13205022	0.93[AFR][1000 genomes]
rs13207800	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13209099	0.93[AFR][1000 genomes]
rs13212013	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13214032	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13214255	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13215865	1.00[AFR][1000 genomes]
rs13216793	0.93[AFR][1000 genomes]
rs13218276	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13220510	1.00[AFR][1000 genomes]
rs13220575	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1451707	0.86[AFR][1000 genomes]
rs1451708	0.86[AFR][1000 genomes]
rs1460561	1.00[AFR][1000 genomes]
rs17685143	1.00[AFR][1000 genomes]
rs17685277	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17685338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17685380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1903330	1.00[AFR][1000 genomes]
rs2013674	0.90[AMR][1000 genomes]
rs2613119	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2817573	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28360535	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28360536	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28360537	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28360538	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34009699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34232358	1.00[AFR][1000 genomes]
rs34399458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34616943	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34714091	1.00[AFR][1000 genomes]
rs34733863	1.00[AFR][1000 genomes]
rs34812189	0.86[AFR][1000 genomes]
rs34979183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35090265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35336675	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35434542	0.86[AFR][1000 genomes]
rs35605425	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35735810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35899012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35961728	0.86[AFR][1000 genomes]
rs36112505	1.00[AFR][1000 genomes]
rs36124814	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41267681	0.90[AMR][1000 genomes]
rs55952713	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56381984	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6901944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6904924	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6906623	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6907143	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6927558	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71550519	1.00[AFR][1000 genomes]
rs71564866	1.00[AFR][1000 genomes]
rs71564868	0.87[AFR][1000 genomes]
rs71564869	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71564870	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71564872	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs720884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7760385	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs34027274	BEND6	cis	Esophagus Muscularis	GTEx
rs34027274	BEND6	cis	Artery Tibial	GTEx
rs34027274	BEND6	cis	Thyroid	GTEx
rs34027274	C6orf65	cis	multi-tissue	Pritchard
rs34027274	BEND6	cis	Muscle Skeletal	GTEx
rs34027274	BEND6	cis	Esophagus Mucosa	GTEx
rs34027274	BEND6	cis	Heart Left Ventricle	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56844800-56863800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:56846200-56851400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:56846400-56865800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:56848600-56848800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:56848600-56850400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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