Variant report

Variant	rs4301189
Chromosome Location	chr5:54156775-54156776
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13156560	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13173142	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13183019	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13183813	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34211924	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34503985	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34563029	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34619620	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34728968	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35046115	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35409466	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35805787	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35839938	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35985754	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36000196	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36009662	0.98[EUR][1000 genomes]
rs3935814	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3935815	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4565175	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55728436	0.80[EUR][1000 genomes]
rs55903850	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66525543	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66812968	0.80[EUR][1000 genomes]
rs66928876	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66955270	0.89[EUR][1000 genomes]
rs67500010	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7733091	0.81[AMR][1000 genomes];0.86[EUR][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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54155000-54156800	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr5:54155800-54163000	Weak transcription	Aorta	Aorta
3	chr5:54156400-54156800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:54156400-54156800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:54156400-54157200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:54156400-54157200	Enhancers	Osteobl	bone
7	chr5:54156400-54157400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:54156400-54158200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:54156400-54158200	Enhancers	NHDF-Ad	bronchial
10	chr5:54156400-54158400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:54156600-54158200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:54156600-54158400	Enhancers	HSMMtube	muscle
13	chr5:54156600-54158600	Enhancers	HSMM	muscle
14	chr5:54156600-54158800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:54156600-54159200	Enhancers	NHLF	lung

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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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