Variant report

Variant	rs2390744
Chromosome Location	chr4:125894745-125894746
allele	A/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:9)

rs_ID	r²[population]
rs10031663	0.84[EUR][1000 genomes]
rs12331751	0.85[EUR][1000 genomes]
rs12640347	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12640447	0.82[EUR][1000 genomes]
rs13140808	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1846198	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6534453	0.81[EUR][1000 genomes]
rs6830717	0.84[EUR][1000 genomes]
rs722549	0.84[EUR][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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125892200-125895200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:125892400-125895000	Weak transcription	HMEC	breast
3	chr4:125892400-125895000	Weak transcription	NHEK	skin
4	chr4:125892600-125895000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:125894400-125894800	Enhancers	HUVEC	blood vessel
6	chr4:125894400-125894800	Enhancers	Osteobl	bone
7	chr4:125894400-125895000	Enhancers	NHDF-Ad	bronchial
8	chr4:125894400-125895400	Enhancers	Fetal Brain Male	brain
9	chr4:125894400-125895600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:125894600-125895800	Enhancers	Fetal Heart	heart

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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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