Variant report

Variant	rs7012653
Chromosome Location	chr8:119515243-119515244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10090804	0.88[ASN][1000 genomes]
rs10097320	0.95[ASN][1000 genomes]
rs10104444	0.90[ASN][1000 genomes]
rs10104761	0.90[ASN][1000 genomes]
rs10110626	0.83[ASN][1000 genomes]
rs10111755	0.82[ASN][1000 genomes]
rs10113428	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11774748	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11774993	0.89[ASN][1000 genomes]
rs12541156	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541178	0.89[ASN][1000 genomes]
rs12545989	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548521	0.89[ASN][1000 genomes]
rs12549010	0.89[ASN][1000 genomes]
rs12678125	0.90[ASN][1000 genomes]
rs13269467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13278633	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515027	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515055	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515056	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515059	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28574967	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4327885	0.90[ASN][1000 genomes]
rs4495457	0.84[ASN][1000 genomes]
rs4559272	0.85[ASN][1000 genomes]
rs4625062	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469752	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6982778	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984080	0.93[ASN][1000 genomes]
rs7004852	0.96[ASN][1000 genomes]
rs71505417	0.83[ASN][1000 genomes]
rs7823933	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7823939	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7825490	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825771	0.90[ASN][1000 genomes]
rs7826003	0.82[ASN][1000 genomes]
rs7836391	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9297589	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119502000-119522400	Weak transcription	Pancreas	Pancrea
2	chr8:119504800-119517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:119507600-119518600	Weak transcription	Fetal Lung	lung
4	chr8:119510400-119517200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:119512200-119516800	Weak transcription	Stomach Mucosa	stomach
6	chr8:119512400-119517000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:119512800-119515600	Weak transcription	GM12878-XiMat	blood
8	chr8:119514000-119517000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:119514800-119515400	Enhancers	Brain Hippocampus Middle	brain
10	chr8:119515000-119517000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:119515200-119516600	Weak transcription	HSMMtube	muscle

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