Variant report

Variant	rs4343750
Chromosome Location	chr4:78058704-78058705
allele	C/T
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:7)

rs_ID	r²[population]
rs59493111	1.00[EUR][1000 genomes]
rs6822060	0.81[EUR][1000 genomes]
rs729239	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs729241	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7655142	0.85[EUR][1000 genomes]
rs7657629	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7659891	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78057600-78062400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:78058000-78059400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:78058600-78059000	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:78058600-78059000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:78058600-78059200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:78058600-78059200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:78058600-78059200	Enhancers	Fetal Lung	lung
8	chr4:78058600-78059400	Enhancers	Primary B cells from cord blood	blood
9	chr4:78058600-78059400	Enhancers	Primary T cells from cord blood	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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