Variant report

Variant	rs1158596
Chromosome Location	chr13:80348653-80348654
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:14)

rs_ID	r²[population]
rs1160131	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414109	0.90[EUR][1000 genomes]
rs4319636	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7321213	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7324675	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318656	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9318657	0.93[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9530960	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9545192	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545193	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545204	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9574473	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574484	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9601268	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900590	chr13:80342186-80421340	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80341600-80349600	Weak transcription	HSMM	muscle
2	chr13:80346200-80349800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:80346200-80349800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:80347000-80353800	Weak transcription	Psoas Muscle	Psoas
5	chr13:80347200-80349600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:80348400-80349000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:80348400-80350800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:80348600-80348800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:80348600-80348800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:80348600-80348800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:80348600-80348800	Enhancers	Fetal Intestine Small	intestine
12	chr13:80348600-80349800	Weak transcription	Fetal Kidney	kidney
13	chr13:80348600-80350000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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

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