Variant report

Variant	rs72789952
Chromosome Location	chr5:111887412-111887413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111886846..111887851-chr5:112092877..112093891,4	MCF-7	breast:
2	chr5:111886837..111887799-chr5:112092992..112093906,9	K562	blood:
3	chr5:111886306..111888838-chr5:111889426..111891005,2	K562	blood:
4	chr5:111886884..111887988-chr5:111940509..111941323,3	K562	blood:
5	chr5:111827723..111828709-chr5:111886769..111887504,3	MCF-7	breast:
6	chr5:111884694..111888064-chr5:112042220..112044384,3	MCF-7	breast:
7	chr5:111887102..111888171-chr5:112026844..112028152,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

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

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

rs_ID	r²[population]
rs55865057	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58384317	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59344896	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862736	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789919	0.96[ASN][1000 genomes]
rs72789920	0.96[ASN][1000 genomes]
rs72789933	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789946	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789948	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789950	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789958	0.84[ASN][1000 genomes]
rs7705340	0.86[AMR][1000 genomes];0.96[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111883800-111887600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:111884400-111887800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:111884400-111890200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:111885000-111889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:111886400-111887800	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:111886600-111888200	Enhancers	Fetal Stomach	stomach
8	chr5:111886600-111889000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:111886800-111887600	Enhancers	Colon Smooth Muscle	Colon
10	chr5:111887000-111887600	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:111887000-111887600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:111887000-111888000	Enhancers	Brain Angular Gyrus	brain
13	chr5:111887000-111888200	Enhancers	Brain Anterior Caudate	brain
14	chr5:111887000-111889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:111887200-111887600	Enhancers	Fetal Brain Female	brain
16	chr5:111887400-111887800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:111887400-111888000	Enhancers	Adipose Nuclei	Adipose
18	chr5:111887400-111888000	Enhancers	Liver	Liver
19	chr5:111887400-111888600	Enhancers	HepG2	liver
20	chr5:111887400-111888800	Enhancers	Fetal Intestine Small	intestine
21	chr5:111887400-111889000	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:111887400-111889000	Enhancers	Brain Substantia Nigra	brain

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