Variant report

Variant	rs1451707
Chromosome Location	chr6:56801877-56801878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1020548	0.83[AMR][1000 genomes]
rs13193465	0.83[AMR][1000 genomes]
rs13193800	0.83[AMR][1000 genomes]
rs13198484	0.83[AMR][1000 genomes]
rs13212013	0.83[AMR][1000 genomes]
rs13214032	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13214255	0.83[AMR][1000 genomes]
rs13215865	0.86[AFR][1000 genomes]
rs13218276	0.83[AMR][1000 genomes]
rs13220510	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1451708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1460561	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1599280	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1599281	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17450853	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17685143	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17685185	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17685277	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17685338	0.86[AFR][1000 genomes]
rs17685380	0.86[AFR][1000 genomes]
rs17752412	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17752435	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17752459	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1903330	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2613119	0.83[AMR][1000 genomes]
rs2817573	0.83[AMR][1000 genomes]
rs28360536	0.83[AMR][1000 genomes]
rs28360537	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28360538	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34009699	0.86[AFR][1000 genomes]
rs34027274	0.86[AFR][1000 genomes]
rs34232358	0.86[AFR][1000 genomes]
rs34259328	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34399458	0.86[AFR][1000 genomes]
rs34616943	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34714091	0.86[AFR][1000 genomes]
rs34733863	0.86[AFR][1000 genomes]
rs34752771	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34812189	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35202312	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35434542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35527216	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35860642	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35961728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36112505	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4490669	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55786720	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55952713	0.83[AMR][1000 genomes]
rs56030203	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56381984	0.83[AMR][1000 genomes]
rs58338781	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61340009	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6904924	0.83[AMR][1000 genomes]
rs6906623	0.83[AMR][1000 genomes]
rs6907143	0.83[AMR][1000 genomes]
rs71550519	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71564866	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71564868	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71564869	0.83[AMR][1000 genomes]
rs71564870	0.83[AMR][1000 genomes]
rs720884	0.86[AFR][1000 genomes]
rs748996	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7760385	0.86[AFR][1000 genomes]
rs9475752	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1451707	BEND6	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56792800-56802400	Weak transcription	A549	lung
2	chr6:56793000-56802600	Weak transcription	HSMM	muscle
3	chr6:56793200-56802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:56793200-56803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:56793200-56803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:56793200-56803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:56793200-56803200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:56796200-56803800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:56796800-56803800	Weak transcription	HSMMtube	muscle
10	chr6:56798800-56803400	Weak transcription	K562	blood
11	chr6:56799200-56802400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:56799200-56802400	Weak transcription	Hela-S3	cervix
13	chr6:56800200-56802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:56800400-56802000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:56800400-56802600	Weak transcription	NH-A	brain
16	chr6:56800400-56802600	Weak transcription	Osteobl	bone
17	chr6:56800400-56803000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:56801000-56802400	Genic enhancers	NHDF-Ad	bronchial
19	chr6:56801000-56804400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:56801400-56802600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:56801600-56802000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:56801800-56802400	Weak transcription	NHLF	lung
23	chr6:56801800-56803000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:56801800-56803200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:56801800-56803400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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