Variant report

Variant	rs72991983
Chromosome Location	chr3:143233520-143233521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57446139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57849310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58052469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58515515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61511523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991973	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991992	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs838603	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518873	chr3:143220697-143237419	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv979886	chr3:143230589-143241439	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143212600-143247400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143223000-143256200	Weak transcription	Esophagus	oesophagus
3	chr3:143227200-143244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:143228000-143243600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:143228600-143236200	Weak transcription	HSMMtube	muscle
6	chr3:143228600-143244000	Weak transcription	HSMM	muscle
7	chr3:143233200-143234000	Enhancers	Fetal Kidney	kidney
8	chr3:143233200-143240800	Enhancers	Dnd41	blood
9	chr3:143233400-143234000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:143233400-143234000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:143233400-143234000	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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