Variant report

Variant	rs13269467
Chromosome Location	chr8:119518848-119518849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10090804	0.91[ASN][1000 genomes]
rs10097320	0.95[ASN][1000 genomes]
rs10104444	0.91[ASN][1000 genomes]
rs10104761	0.91[ASN][1000 genomes]
rs10110626	0.84[ASN][1000 genomes]
rs10111755	0.83[ASN][1000 genomes]
rs10113428	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11774748	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11774993	0.92[ASN][1000 genomes]
rs12541156	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12541178	0.92[ASN][1000 genomes]
rs12545989	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12548521	0.92[ASN][1000 genomes]
rs12549010	0.92[ASN][1000 genomes]
rs12678125	0.91[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];0.99[ASN][1000 genomes]
rs2515055	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515056	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515059	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28574967	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4327885	0.91[ASN][1000 genomes]
rs4495457	0.86[ASN][1000 genomes]
rs4559272	0.86[ASN][1000 genomes]
rs4625062	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469752	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6469754	0.81[ASN][1000 genomes]
rs6982778	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984080	0.94[ASN][1000 genomes]
rs7004852	0.97[ASN][1000 genomes]
rs7012653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71505417	0.84[ASN][1000 genomes]
rs7823933	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7823939	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7825490	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825771	0.91[ASN][1000 genomes]
rs7826003	0.83[ASN][1000 genomes]
rs7836391	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9297589	0.84[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119502000-119522400	Weak transcription	Pancreas	Pancrea
2	chr8:119516800-119520000	Enhancers	Stomach Mucosa	stomach
3	chr8:119517000-119519200	Enhancers	NHLF	lung
4	chr8:119517000-119520200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:119517000-119522800	Enhancers	HMEC	breast
6	chr8:119517200-119519200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:119517200-119520400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:119517200-119522800	Enhancers	NHEK	skin
9	chr8:119517600-119519800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:119517800-119519000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:119518000-119519000	Enhancers	Liver	Liver
12	chr8:119518000-119519200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:119518000-119519200	Weak transcription	Osteobl	bone
14	chr8:119518000-119519800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:119518000-119520000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:119518000-119520000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:119518000-119522800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:119518200-119519200	Enhancers	GM12878-XiMat	blood
19	chr8:119518200-119519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:119518200-119521600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:119518400-119523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:119518600-119519400	Enhancers	Fetal Lung	lung
23	chr8:119518600-119523000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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