Variant report

Variant	rs28489475
Chromosome Location	chr18:12581148-12581149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28478396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28521370	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28573711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28876145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57257133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58664932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60689649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8091734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8094715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944881	0.83[AFR][1000 genomes]
rs9947940	0.83[AFR][1000 genomes]
rs9953066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9960249	0.83[AFR][1000 genomes]
rs9964146	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12570000-12595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:12570200-12581800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:12576000-12581200	Weak transcription	HepG2	liver
4	chr18:12578800-12588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr18:12579400-12588800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:12581000-12581600	Weak transcription	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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