Variant report

Variant	rs73940374
Chromosome Location	chr2:56226541-56226542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10185410	1.00[AMR][1000 genomes]
rs10187691	1.00[AMR][1000 genomes]
rs10191821	1.00[AMR][1000 genomes]
rs10193578	1.00[AMR][1000 genomes]
rs10197914	1.00[AMR][1000 genomes]
rs10200020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10518798	0.91[AFR][1000 genomes]
rs13390181	1.00[AMR][1000 genomes]
rs13390742	1.00[AMR][1000 genomes]
rs13398296	1.00[AMR][1000 genomes]
rs13398763	1.00[AMR][1000 genomes]
rs13426058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047345	1.00[AMR][1000 genomes]
rs2868442	1.00[AMR][1000 genomes]
rs6724301	1.00[AMR][1000 genomes]
rs6726939	1.00[AMR][1000 genomes]
rs6734396	0.81[AFR][1000 genomes]
rs6743905	1.00[AMR][1000 genomes]
rs6752420	0.91[AFR][1000 genomes]
rs73940376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73940377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73940378	0.81[AFR][1000 genomes]
rs73940379	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7572112	1.00[AMR][1000 genomes]
rs7577815	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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56222000-56229600	Weak transcription	Fetal Stomach	stomach
2	chr2:56225800-56227000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:56226000-56226600	Enhancers	Osteobl	bone
4	chr2:56226000-56227600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:56226200-56227200	Enhancers	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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