Variant report

Variant	rs1490985
Chromosome Location	chr5:125048717-125048718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10056409	0.82[ASN][1000 genomes]
rs10064620	0.94[ASN][1000 genomes]
rs13154003	0.84[ASN][1000 genomes]
rs1490983	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1490986	0.86[ASN][1000 genomes]
rs17153106	0.82[ASN][1000 genomes]
rs17153111	0.82[ASN][1000 genomes]
rs1873482	1.00[ASN][1000 genomes]
rs28696180	0.82[ASN][1000 genomes]
rs28703569	0.82[ASN][1000 genomes]
rs4620020	0.82[ASN][1000 genomes]
rs7713048	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735956	0.99[ASN][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	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

No data

Chromatin state (count:9 , 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	chr5:125045000-125050000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:125048200-125049400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:125048200-125049400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:125048400-125049000	Enhancers	HepG2	liver
6	chr5:125048600-125049200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:125048600-125049400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:125048600-125049400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:125048600-125049600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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