Variant report

Variant	rs548916
Chromosome Location	chr5:152891475-152891476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10060095	0.86[ASN][1000 genomes]
rs13170232	0.81[ASN][1000 genomes]
rs17114692	0.88[ASN][1000 genomes]
rs472792	0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs498858	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs515887	0.81[AFR][1000 genomes]
rs518370	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs524905	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs540375	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs542161	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67431205	0.88[ASN][1000 genomes]
rs7727515	0.88[ASN][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152876800-152896000	Weak transcription	Brain Anterior Caudate	brain
2	chr5:152878600-152892400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:152885800-152892200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:152885800-152900000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:152885800-152900600	Weak transcription	Aorta	Aorta
6	chr5:152886200-152896000	Weak transcription	Fetal Brain Female	brain
7	chr5:152886600-152891800	Weak transcription	Fetal Brain Male	brain
8	chr5:152888400-152891800	Enhancers	Brain Germinal Matrix	brain
9	chr5:152889600-152892000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:152890400-152891800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:152890600-152892000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:152890800-152895800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:152891000-152896000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:152891200-152892200	Weak transcription	HSMMtube	muscle
15	chr5:152891400-152891600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:152891400-152892000	Enhancers	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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