Variant report

Variant	rs72713453
Chromosome Location	chr14:55285160-55285161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10131232	0.82[ASN][1000 genomes]
rs10133662	0.81[ASN][1000 genomes]
rs10133941	0.81[ASN][1000 genomes]
rs10483639	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626298	0.81[ASN][1000 genomes]
rs11848732	0.82[ASN][1000 genomes]
rs12587434	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12589758	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17127992	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128004	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057368	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2057369	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145945	0.84[ASN][1000 genomes]
rs2149483	0.86[ASN][1000 genomes]
rs2878168	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4411417	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55985131	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57875940	0.93[EUR][1000 genomes]
rs67468157	0.85[ASN][1000 genomes]
rs7141685	0.88[ASN][1000 genomes]
rs7144602	0.88[ASN][1000 genomes]
rs7147737	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7148266	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7151058	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154323	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155309	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713456	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72713460	0.98[EUR][1000 genomes]
rs72713467	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs752688	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs841	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323272	0.88[ASN][1000 genomes]
rs9671371	0.86[ASN][1000 genomes]
rs9671455	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9671850	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv974465	chr14:55282030-55287312	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55282200-55285200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:55282200-55285200	Weak transcription	HSMM	muscle
3	chr14:55282200-55285600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:55284000-55285200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:55284000-55285400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:55284000-55285400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:55284200-55285200	Bivalent Enhancer	HepG2	liver
8	chr14:55284200-55286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:55284600-55285600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55284600-55285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:55284600-55286000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:55284600-55286000	Enhancers	Fetal Intestine Large	intestine
13	chr14:55284600-55286600	Enhancers	Fetal Intestine Small	intestine
14	chr14:55284800-55285600	Enhancers	HSMMtube	muscle
15	chr14:55284800-55285800	Enhancers	Brain Germinal Matrix	brain
16	chr14:55285000-55285200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:55285000-55285400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:55285000-55285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:55285000-55285800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:55285000-55285800	Flanking Active TSS	Osteobl	bone
21	chr14:55285000-55286000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:55285000-55286000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:55285000-55286000	Flanking Active TSS	Hela-S3	cervix

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