Variant report

Variant	rs12749667
Chromosome Location	chr1:112573265-112573266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000267131	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000231437	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12724483	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751286	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1372861	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1443925	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs166555	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17739527	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3008534	0.86[EUR][1000 genomes]
rs3017628	0.85[EUR][1000 genomes]
rs34751177	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs400151	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4088223	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4838935	0.97[AMR][1000 genomes];0.96[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	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv831059	chr1:112569062-112724725	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112568800-112574200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:112569600-112578000	Enhancers	Fetal Stomach	stomach
3	chr1:112572000-112575200	Weak transcription	Brain Germinal Matrix	brain
4	chr1:112573000-112573600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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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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