Variant report

Variant	rs72973469
Chromosome Location	chr6:129034660-129034661
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1508441	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17056337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59131499	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59937884	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6921491	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72970128	0.86[EUR][1000 genomes]
rs72970130	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72970137	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72973463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973488	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72973500	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72975313	0.81[AFR][1000 genomes]
rs72985543	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72985545	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7766952	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9482914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9482918	0.81[AFR][1000 genomes]
rs9492035	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9492048	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9492050	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9492051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492053	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492054	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9492057	0.81[AFR][1000 genomes]
rs9492059	0.81[AFR][1000 genomes]
rs9492060	0.81[AFR][1000 genomes]
rs9492061	0.81[AFR][1000 genomes]
rs9492062	0.81[AFR][1000 genomes]
rs9492063	0.81[AFR][1000 genomes]
rs9492064	0.83[AFR][1000 genomes]
rs9654635	0.91[AMR][1000 genomes];0.96[EUR][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	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv830801	chr6:128878436-129064667	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030330	chr6:129008538-129095108	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:129018600-129045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:129026600-129044000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:129033600-129035200	Enhancers	Fetal Heart	heart
4	chr6:129033600-129035200	Enhancers	NHDF-Ad	bronchial
5	chr6:129033800-129039800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:129034000-129034800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:129034000-129035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:129034000-129035200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:129034200-129035000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:129034200-129035000	Enhancers	Colon Smooth Muscle	Colon

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