Variant report

Variant	rs73140334
Chromosome Location	chr20:52601132-52601133
allele	C/T
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:13)

rs_ID	r²[population]
rs6091799	0.81[EUR][1000 genomes]
rs73124062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73137773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73137783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73137786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73137796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73137798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73140332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73140343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52581200-52610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:52596400-52601400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:52599600-52602000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr20:52599800-52601200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:52600000-52601800	Strong transcription	Stomach Mucosa	stomach
7	chr20:52600200-52601400	Enhancers	Brain Anterior Caudate	brain
8	chr20:52600200-52602000	Enhancers	Fetal Muscle Leg	muscle
9	chr20:52600400-52602000	Enhancers	HSMM	muscle
10	chr20:52600600-52601600	Enhancers	Brain Hippocampus Middle	brain
11	chr20:52600600-52602200	Enhancers	HSMMtube	muscle
12	chr20:52600800-52601800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:52600800-52601800	Enhancers	Brain Cingulate Gyrus	brain
14	chr20:52601000-52601200	Enhancers	Fetal Muscle Trunk	muscle
15	chr20:52601000-52601200	Enhancers	NHDF-Ad	bronchial
16	chr20:52601000-52601400	Enhancers	Brain Angular Gyrus	brain
17	chr20:52601000-52601400	Flanking Active TSS	Osteobl	bone
18	chr20:52601000-52601800	Enhancers	Brain Substantia Nigra	brain
19	chr20:52601000-52602000	Enhancers	Fetal Stomach	stomach

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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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