Variant report

Variant	rs2013674
Chromosome Location	chr6:56880459-56880460
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	chr6:56820267..56822074-chr6:56879367..56881411,2	K562	blood:
2	chr6:56879999..56883408-chr6:57181987..57184003,3	K562	blood:

Variant related genes	Relation type
ENSG00000146143	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1044670	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13207800	0.87[AMR][1000 genomes]
rs13220575	0.90[AMR][1000 genomes]
rs17685338	0.90[AMR][1000 genomes]
rs17685380	0.90[AMR][1000 genomes]
rs28360535	0.90[AMR][1000 genomes]
rs34009699	0.90[AMR][1000 genomes]
rs34027274	0.90[AMR][1000 genomes]
rs34399458	0.90[AMR][1000 genomes]
rs34979183	0.90[AMR][1000 genomes]
rs35090265	0.90[AMR][1000 genomes]
rs35336675	0.90[AMR][1000 genomes]
rs35605425	0.90[AMR][1000 genomes]
rs35735810	0.90[AMR][1000 genomes]
rs35899012	0.90[AMR][1000 genomes]
rs36124814	0.90[AMR][1000 genomes]
rs41267681	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6901944	0.90[AMR][1000 genomes]
rs71564872	0.90[AMR][1000 genomes]
rs720884	0.90[AMR][1000 genomes]
rs7760385	0.84[AMR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2013674	BEND6	cis	Esophagus Muscularis	GTEx
rs2013674	BEND6	cis	Artery Tibial	GTEx
rs2013674	BEND6	cis	Muscle Skeletal	GTEx
rs2013674	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56858600-56889400	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:56864600-56890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:56878600-56885800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:56878600-56905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:56878800-56881200	Weak transcription	Fetal Lung	lung
6	chr6:56878800-56882200	Weak transcription	HSMMtube	muscle
7	chr6:56878800-56882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:56879000-56881600	Weak transcription	K562	blood
9	chr6:56879000-56891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:56879200-56882400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:56879200-56883800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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