Variant report

Variant	rs72789958
Chromosome Location	chr5:111889433-111889434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55865057	0.84[ASN][1000 genomes]
rs58384317	0.86[ASN][1000 genomes]
rs59344896	0.84[ASN][1000 genomes]
rs6862736	0.84[ASN][1000 genomes]
rs72789919	0.81[ASN][1000 genomes]
rs72789920	0.81[ASN][1000 genomes]
rs72789933	0.84[ASN][1000 genomes]
rs72789946	0.84[ASN][1000 genomes]
rs72789948	0.84[ASN][1000 genomes]
rs72789950	0.84[ASN][1000 genomes]
rs72789952	0.84[ASN][1000 genomes]
rs7705340	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111884400-111890200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:111885000-111889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:111887000-111889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:111887600-111889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:111887600-111890200	Weak transcription	Fetal Brain Female	brain
7	chr5:111887800-111890800	Weak transcription	Fetal Heart	heart
8	chr5:111888000-111889600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:111888000-111889600	Weak transcription	Brain Germinal Matrix	brain
10	chr5:111888000-111891200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:111888200-111889600	Weak transcription	Brain Anterior Caudate	brain
12	chr5:111888800-111889600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:111888800-111889600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:111888800-111889800	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:111889400-111890000	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:111889400-111890000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:111889400-111890000	Enhancers	Brain Substantia Nigra	brain
18	chr5:111889400-111890000	Enhancers	NHDF-Ad	bronchial
19	chr5:111889400-111891200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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