Variant report

Variant	rs12518407
Chromosome Location	chr5:95508048-95508049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10054303	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10062171	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10064683	0.96[ASN][1000 genomes]
rs10213951	0.95[ASN][1000 genomes]
rs28788264	0.86[ASN][1000 genomes]
rs4077816	0.94[ASN][1000 genomes]
rs4367317	0.96[ASN][1000 genomes]
rs4379224	0.96[ASN][1000 genomes]
rs4464721	0.97[ASN][1000 genomes]
rs4635954	0.85[ASN][1000 genomes]
rs4635955	0.94[ASN][1000 genomes]
rs4869275	0.96[ASN][1000 genomes]
rs55745974	0.96[ASN][1000 genomes]
rs56311820	0.96[ASN][1000 genomes]
rs62366027	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62366031	0.96[ASN][1000 genomes]
rs6556912	0.84[ASN][1000 genomes]
rs6888535	0.92[ASN][1000 genomes]
rs6899076	0.97[ASN][1000 genomes]
rs72787618	0.93[ASN][1000 genomes]
rs7447610	0.85[ASN][1000 genomes]
rs7708068	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035022	chr5:95487901-95526796	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:95494000-95511600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:95506800-95512000	Weak transcription	Liver	Liver
3	chr5:95507200-95510200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:95507400-95508600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:95507600-95508400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:95507800-95508600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:95507800-95511200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:95508000-95508800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:95508000-95508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:95508000-95508800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:95508000-95509000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:95508000-95509000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:95508000-95509000	Enhancers	HSMM	muscle
14	chr5:95508000-95509000	Enhancers	HSMMtube	muscle
15	chr5:95508000-95509000	Enhancers	NH-A	brain
16	chr5:95508000-95509000	Enhancers	Osteobl	bone
17	chr5:95508000-95509200	Enhancers	Muscle Satellite Cultured Cells	--

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