Variant report

Variant	rs58416131
Chromosome Location	chr14:81914313-81914314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17111839	0.84[AFR][1000 genomes]
rs17111840	0.81[AFR][1000 genomes]
rs17111848	0.80[AFR][1000 genomes]
rs59694925	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59833833	1.00[AFR][1000 genomes];0.87[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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81910000-81919000	Weak transcription	K562	blood
2	chr14:81910600-81915400	Weak transcription	Aorta	Aorta
3	chr14:81912200-81915000	Enhancers	Fetal Muscle Leg	muscle
4	chr14:81912400-81915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81912600-81914800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:81912600-81916800	Enhancers	Psoas Muscle	Psoas
7	chr14:81912600-81917000	Enhancers	NHDF-Ad	bronchial
8	chr14:81912800-81915400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:81912800-81915400	Weak transcription	HSMMtube	muscle
10	chr14:81913000-81914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:81913200-81915200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:81913200-81915600	Weak transcription	Fetal Lung	lung
13	chr14:81913600-81915000	Weak transcription	HepG2	liver
14	chr14:81913600-81915200	Weak transcription	Adipose Nuclei	Adipose
15	chr14:81913800-81915200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:81913800-81915200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:81913800-81915400	Weak transcription	HSMM	muscle
18	chr14:81914000-81915000	Enhancers	Skeletal Muscle Male	skeletal muscle

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Input of quick search could be:

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

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