Variant report

Variant	rs639272
Chromosome Location	chr18:40195053-40195054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1594436	0.87[EUR][1000 genomes]
rs1624685	0.81[EUR][1000 genomes]
rs28584921	0.85[EUR][1000 genomes]
rs628514	0.81[EUR][1000 genomes]
rs629764	0.81[EUR][1000 genomes]
rs6507493	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655464	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs657288	0.86[EUR][1000 genomes]
rs7230753	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7239418	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7239950	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7240077	0.88[EUR][1000 genomes]
rs7244619	0.87[EUR][1000 genomes]
rs725744	0.88[EUR][1000 genomes]
rs9304274	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9944932	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9955757	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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	esv3447158	chr18:40045478-40320720	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv833632	chr18:40187679-40388058	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40193800-40195600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr18:40193800-40196000	Enhancers	Fetal Muscle Leg	muscle
3	chr18:40194000-40196000	Enhancers	Brain Substantia Nigra	brain
4	chr18:40194000-40196000	Enhancers	HUVEC	blood vessel
5	chr18:40194200-40196000	Enhancers	Brain Hippocampus Middle	brain
6	chr18:40194400-40195600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr18:40194600-40196000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr18:40194800-40195200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:40195000-40195200	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr18:40195000-40195800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr18:40195000-40200200	Weak transcription	Adipose Nuclei	Adipose

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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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