Variant report

Variant	rs59820375
Chromosome Location	chr5:127135951-127135952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58138119	1.00[AMR][1000 genomes]
rs73331823	1.00[AMR][1000 genomes]
rs73331851	1.00[AMR][1000 genomes]
rs73347003	1.00[AMR][1000 genomes]
rs73347010	1.00[AMR][1000 genomes]
rs73347046	1.00[AMR][1000 genomes]
rs73347053	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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127128200-127137400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:127130000-127136600	Weak transcription	Gastric	stomach
3	chr5:127131800-127136600	Weak transcription	Stomach Mucosa	stomach
4	chr5:127134200-127136000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:127134600-127136000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127134800-127136000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:127135000-127137400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:127135200-127143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:127135400-127138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:127135600-127137400	Weak transcription	NHEK	skin
11	chr5:127135600-127137600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:127135800-127136200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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