Variant report

Variant	rs58722513
Chromosome Location	chr2:54935169-54935170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11892723	1.00[AMR][1000 genomes]
rs1963878	1.00[AMR][1000 genomes]
rs57368496	1.00[AMR][1000 genomes]
rs73934453	1.00[AMR][1000 genomes]
rs73934497	1.00[AMR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54922400-54935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:54931200-54935200	Enhancers	HepG2	liver
3	chr2:54931800-54935600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:54931800-54935800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:54931800-54935800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:54931800-54935800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:54931800-54935800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:54932000-54935800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:54932400-54935600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:54934800-54935600	Enhancers	Fetal Intestine Large	intestine
11	chr2:54935000-54935400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:54935000-54935400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:54935000-54935600	Enhancers	Fetal Intestine Small	intestine
14	chr2:54935000-54935600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:54935000-54935800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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