Variant report

Variant	rs72788743
Chromosome Location	chr5:125033221-125033222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10065524	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10793808	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11241821	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1490975	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1490987	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1490990	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532179	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532180	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532181	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532182	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2029547	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595625	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595629	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6864061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6889192	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7707480	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9327366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv534468	chr5:124943170-125634960	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv462441	chr5:124969756-125034613	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv599659	chr5:124969756-125034613	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:125021800-125055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:125031000-125033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:125031600-125033400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:125031800-125033400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:125031800-125033400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:125032000-125033400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:125032000-125033400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:125032400-125033400	Enhancers	NHDF-Ad	bronchial
9	chr5:125032800-125035400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:125033000-125033800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:125033000-125035200	Weak transcription	Stomach Mucosa	stomach
12	chr5:125033000-125035600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:125033000-125035600	Weak transcription	Fetal Intestine Small	intestine
14	chr5:125033200-125035200	Weak transcription	HSMM	muscle
15	chr5:125033200-125035400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:125033200-125035600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:125033200-125035600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:125033200-125035600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:125033200-125035600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:125033200-125035600	Weak transcription	Osteobl	bone
21	chr5:125033200-125035800	Weak transcription	NH-A	brain
22	chr5:125033200-125036200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links