Variant report

Variant	rs4242239
Chromosome Location	chr5:92482226-92482227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10514370	0.81[ASN][1000 genomes]
rs12519773	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13177386	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496331	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496332	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4343824	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4358503	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4470752	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4489042	0.83[ASN][1000 genomes]
rs4869412	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6557063	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66496757	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67779882	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6873704	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6883741	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7446568	0.81[ASN][1000 genomes]
rs7711868	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs959922	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92478200-92486200	Weak transcription	NHLF	lung
2	chr5:92481000-92482400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:92481000-92482400	Enhancers	Osteobl	bone
4	chr5:92481000-92486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:92481000-92486400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:92481200-92489200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:92481800-92482600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:92481800-92486000	Weak transcription	NHDF-Ad	bronchial
9	chr5:92481800-92486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:92481800-92486200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:92481800-92486200	Weak transcription	NH-A	brain
12	chr5:92482200-92485800	Weak transcription	HSMMtube	muscle
13	chr5:92482200-92486000	Weak transcription	HSMM	muscle
14	chr5:92482200-92486200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:92482200-92486200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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