Variant report

Variant	rs1421979
Chromosome Location	chr5:167278596-167278597
allele	C/T
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:16)

rs_ID	r²[population]
rs1024970	0.90[ASN][1000 genomes]
rs12109973	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12189098	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12522225	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12716236	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13165876	0.93[ASN][1000 genomes]
rs13182072	0.81[AMR][1000 genomes]
rs1363205	0.80[EUR][1000 genomes]
rs1421982	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1421983	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1963355	0.91[EUR][1000 genomes]
rs2112309	0.87[EUR][1000 genomes]
rs4632816	0.88[EUR][1000 genomes]
rs6555773	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6555775	0.88[ASN][1000 genomes]
rs7729681	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv462511	chr5:167275087-167324809	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	nsv600254	chr5:167275087-167324809	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167266600-167326200	Weak transcription	HMEC	breast
3	chr5:167271200-167280000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:167273200-167284400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:167275000-167280400	Weak transcription	Fetal Lung	lung
6	chr5:167275200-167280400	Weak transcription	NHDF-Ad	bronchial
7	chr5:167277000-167279000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:167277000-167282000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167277200-167279000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:167277400-167279400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:167277600-167278600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:167278000-167278600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:167278000-167279400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:167278000-167283800	Weak transcription	NHEK	skin
15	chr5:167278200-167280400	Weak transcription	NH-A	brain
16	chr5:167278400-167278600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:167278400-167280400	Weak transcription	Osteobl	bone

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

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