Variant report

Variant	rs7718412
Chromosome Location	chr5:167093279-167093280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10516036	0.88[EUR][1000 genomes]
rs11134467	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11950863	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12521170	0.85[ASN][1000 genomes]
rs1380166	0.96[EUR][1000 genomes]
rs1459074	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1459075	0.89[AMR][1000 genomes]
rs1459076	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17068914	0.86[AMR][1000 genomes]
rs17068925	0.97[EUR][1000 genomes]
rs17068972	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2243779	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs279385	0.83[AMR][1000 genomes]
rs279386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs279408	0.85[ASN][1000 genomes]
rs279409	0.85[ASN][1000 genomes]
rs4351166	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4431367	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4432913	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4463193	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4463194	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4546405	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4993461	0.83[ASN][1000 genomes]
rs4993462	0.83[ASN][1000 genomes]
rs56116300	0.87[EUR][1000 genomes]
rs57372018	0.96[EUR][1000 genomes]
rs6555764	0.83[ASN][1000 genomes]
rs6863828	0.83[ASN][1000 genomes]
rs6885086	0.85[ASN][1000 genomes]
rs6885448	0.85[ASN][1000 genomes]
rs7723247	0.83[ASN][1000 genomes]
rs7725107	0.83[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	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2763892	chr5:167080980-167101161	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167090600-167115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167090800-167097800	Weak transcription	A549	lung
3	chr5:167091000-167093400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167091000-167096600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:167091200-167095400	Weak transcription	HSMM	muscle
6	chr5:167092000-167096400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:167093000-167093400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:167093200-167094200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:167093200-167094600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:167093200-167096400	Weak transcription	Fetal Lung	lung
11	chr5:167093200-167097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:167093200-167100400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links