Variant report

Variant	rs11878125
Chromosome Location	chr18:29354110-29354111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11872573	0.87[EUR][1000 genomes]
rs11873179	0.87[EUR][1000 genomes]
rs11875776	0.87[EUR][1000 genomes]
rs11877944	0.87[EUR][1000 genomes]
rs11878037	0.87[EUR][1000 genomes]
rs17661969	0.86[EUR][1000 genomes]
rs57080800	0.87[EUR][1000 genomes]
rs58888923	0.87[EUR][1000 genomes]
rs8088968	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8089491	1.00[CEU][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29353800-29354200	Enhancers	GM12878-XiMat	blood
2	chr18:29353800-29354600	Active TSS	HepG2	liver
3	chr18:29353800-29354800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:29353800-29354800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:29353800-29355600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr18:29354000-29354400	Active TSS	Fetal Intestine Large	intestine
7	chr18:29354000-29354400	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr18:29354000-29354600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:29354000-29354600	Active TSS	Duodenum Mucosa	Duodenum
10	chr18:29354000-29354600	Active TSS	Osteobl	bone
11	chr18:29354000-29354800	Flanking Active TSS	Liver	Liver
12	chr18:29354000-29357600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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