Variant report

Variant	rs72993783
Chromosome Location	chr3:142616114-142616115
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3732742	1.00[AMR][1000 genomes]
rs6782209	1.00[AMR][1000 genomes]
rs72990707	1.00[AMR][1000 genomes]
rs72990714	1.00[AMR][1000 genomes]
rs72990829	1.00[AMR][1000 genomes]
rs72994549	1.00[AMR][1000 genomes]
rs72999509	1.00[AMR][1000 genomes]
rs72999535	1.00[AMR][1000 genomes]
rs73003356	1.00[AMR][1000 genomes]
rs73003379	1.00[AMR][1000 genomes]
rs73005387	1.00[AMR][1000 genomes]
rs7627274	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv437342	chr3:142605233-142622834	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv437343	chr3:142607487-142622834	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142608600-142617800	Weak transcription	Aorta	Aorta
2	chr3:142609600-142616800	Weak transcription	Adipose Nuclei	Adipose
3	chr3:142615200-142616200	Enhancers	Hela-S3	cervix
4	chr3:142615200-142616600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:142615200-142617800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:142615400-142616200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:142615400-142617200	Enhancers	Osteobl	bone
8	chr3:142615600-142623400	Weak transcription	NHDF-Ad	bronchial
9	chr3:142616000-142620800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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