Variant report

Variant	rs62373387
Chromosome Location	chr5:124872251-124872252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10076374	0.96[EUR][1000 genomes]
rs13157757	0.92[EUR][1000 genomes]
rs1598817	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2220621	0.92[EUR][1000 genomes]
rs59771425	0.92[EUR][1000 genomes]
rs60163815	0.89[EUR][1000 genomes]
rs60696888	0.92[EUR][1000 genomes]
rs61202049	0.89[EUR][1000 genomes]
rs62373366	0.92[EUR][1000 genomes]
rs62373367	0.92[EUR][1000 genomes]
rs62373368	0.92[EUR][1000 genomes]
rs62373384	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62373385	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62373389	1.00[EUR][1000 genomes]
rs62373391	0.85[EUR][1000 genomes]
rs62373392	0.92[EUR][1000 genomes]
rs62373412	0.92[EUR][1000 genomes]
rs62373414	0.89[EUR][1000 genomes]
rs6899200	0.89[EUR][1000 genomes]
rs7710810	0.92[EUR][1000 genomes]
rs7717300	0.96[EUR][1000 genomes]
rs7728701	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv882825	chr5:124836528-124877035	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv882826	chr5:124840910-124875058	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv882827	chr5:124867823-124943901	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv882828	chr5:124867823-124958205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124871000-124872400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:124871600-124873400	Enhancers	Dnd41	blood
3	chr5:124871800-124872400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:124871800-124872400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:124871800-124872400	Enhancers	HMEC	breast
6	chr5:124871800-124872400	Enhancers	NH-A	brain
7	chr5:124871800-124872600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:124871800-124873000	Enhancers	NHEK	skin
9	chr5:124871800-124873200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:124872000-124872400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:124872000-124872400	Enhancers	Stomach Mucosa	stomach
12	chr5:124872000-124872400	Enhancers	HSMM	muscle
13	chr5:124872000-124872400	Enhancers	NHDF-Ad	bronchial
14	chr5:124872000-124872600	Enhancers	HSMMtube	muscle
15	chr5:124872000-124872600	Enhancers	Osteobl	bone
16	chr5:124872000-124873400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:124872000-124873400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:124872000-124885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:124872200-124873800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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