Variant report

Variant	rs4800269
Chromosome Location	chr18:24371645-24371646
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1017415	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1020477	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1823366	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865540	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55692318	0.82[EUR][1000 genomes]
rs55841767	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087166	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089326	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2761995	chr18:24214286-24502570	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4800269	LOC728606	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24365400-24372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr18:24369000-24371800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:24371400-24372400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:24371400-24372600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:24371600-24372200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:24371600-24372400	Enhancers	NHEK	skin
7	chr18:24371600-24372800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:24371600-24373000	Enhancers	HMEC	breast
9	chr18:24371600-24374600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links