Variant report

Variant	rs2133333
Chromosome Location	chr4:54687483-54687484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13124199	0.88[EUR][1000 genomes]
rs2898989	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4241977	0.85[EUR][1000 genomes]
rs4864829	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9312646	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9686060	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879016	chr4:54638218-54710952	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv19126	chr4:54653249-54709054	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54685000-54687600	Weak transcription	Fetal Stomach	stomach
2	chr4:54686200-54690600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:54687000-54688000	Enhancers	Colon Smooth Muscle	Colon
4	chr4:54687200-54687800	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:54687400-54687800	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr4:54687400-54688000	Enhancers	Stomach Smooth Muscle	stomach
7	chr4:54687400-54688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:54687400-54688800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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