Variant report

Variant	rs712556
Chromosome Location	chr5:114997215-114997216
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1067726	0.98[ASN][1000 genomes]
rs1067728	0.98[ASN][1000 genomes]
rs149472	0.87[ASN][1000 genomes]
rs152416	1.00[ASN][1000 genomes]
rs153073	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs153074	1.00[ASN][1000 genomes]
rs1651414	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1698097	0.98[ASN][1000 genomes]
rs171662	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173733	0.91[ASN][1000 genomes]
rs2431441	0.91[ASN][1000 genomes]
rs2431443	0.91[ASN][1000 genomes]
rs2434727	0.91[ASN][1000 genomes]
rs2455447	0.91[ASN][1000 genomes]
rs2455450	0.91[ASN][1000 genomes]
rs249720	1.00[ASN][1000 genomes]
rs249721	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251878	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251879	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2545847	0.93[ASN][1000 genomes]
rs2561860	0.98[ASN][1000 genomes]
rs2652663	0.96[ASN][1000 genomes]
rs3105151	0.96[ASN][1000 genomes]
rs397908	0.96[ASN][1000 genomes]
rs403039	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs422161	0.98[ASN][1000 genomes]
rs425666	0.98[ASN][1000 genomes]
rs432032	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs440138	0.98[ASN][1000 genomes]
rs440925	0.98[ASN][1000 genomes]
rs441398	0.98[ASN][1000 genomes]
rs447079	0.98[ASN][1000 genomes]
rs455226	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs459180	0.98[ASN][1000 genomes]
rs460451	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs461084	0.98[ASN][1000 genomes]
rs461105	0.93[ASN][1000 genomes]
rs461952	0.91[ASN][1000 genomes]
rs462799	0.98[ASN][1000 genomes]
rs465126	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs465457	0.91[ASN][1000 genomes]
rs465496	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs465997	0.94[ASN][1000 genomes]
rs7733817	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs791565	0.81[AMR][1000 genomes];1.00[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114994000-115001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114996000-114998600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:114996200-114997400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:114996200-114997600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:114996400-114998600	Enhancers	Fetal Lung	lung
6	chr5:114996600-114997600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:114996600-114997600	Enhancers	Osteobl	bone
8	chr5:114996800-114997600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:114996800-114997600	Enhancers	Adipose Nuclei	Adipose
10	chr5:114997000-114997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:114997200-114997400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:114997200-114997400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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