Variant report

Variant	rs518370
Chromosome Location	chr5:152885362-152885363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs472792	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs498858	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524905	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540375	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542161	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548916	0.93[AMR][1000 genomes];0.97[EUR][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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1019051	chr5:152550863-153057896	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868912	chr5:152582002-153095306	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152872000-152886800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:152876200-152888400	Weak transcription	Brain Germinal Matrix	brain
3	chr5:152876800-152896000	Weak transcription	Brain Anterior Caudate	brain
4	chr5:152878600-152892400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:152881600-152885400	Weak transcription	Aorta	Aorta
6	chr5:152881600-152885400	Weak transcription	Fetal Brain Female	brain
7	chr5:152882400-152885600	Weak transcription	Fetal Brain Male	brain
8	chr5:152884000-152885800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:152884000-152885800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:152884200-152885800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:152884600-152885600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:152884600-152886400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:152884800-152885800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:152884800-152889400	Weak transcription	Fetal Lung	lung
15	chr5:152885000-152886200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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

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