Variant report

Variant	rs1493455
Chromosome Location	chr5:111269667-111269668
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10045343	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10060791	1.00[AMR][1000 genomes]
rs10075625	1.00[AMR][1000 genomes]
rs10078382	1.00[ASN][1000 genomes]
rs11738263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738364	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11742651	0.82[CEU][hapmap]
rs11745819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960552	0.89[EUR][1000 genomes]
rs1389310	0.89[EUR][1000 genomes]
rs1389311	0.89[EUR][1000 genomes]
rs1389312	0.89[EUR][1000 genomes]
rs1494586	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57650449	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60643360	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664517	0.86[EUR][1000 genomes]
rs6862840	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897269	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs73225635	0.86[EUR][1000 genomes]
rs73225639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225643	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225644	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225647	1.00[ASN][1000 genomes]
rs73227423	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704654	1.00[ASN][1000 genomes]
rs7705253	0.81[AMR][1000 genomes]
rs7709342	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709768	0.83[EUR][1000 genomes]
rs7719309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111265200-111270400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:111265600-111270000	Enhancers	Fetal Heart	heart
3	chr5:111267200-111278600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:111268600-111269800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:111268800-111271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:111268800-111271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:111268800-111271600	Weak transcription	NHEK	skin
8	chr5:111269000-111270000	Weak transcription	Right Ventricle	heart
9	chr5:111269000-111271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:111269000-111271600	Weak transcription	NHLF	lung
11	chr5:111269000-111272800	Weak transcription	NH-A	brain
12	chr5:111269000-111278000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:111269200-111278000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:111269400-111271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:111269400-111271600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:111269400-111277400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:111269400-111277400	Weak transcription	NHDF-Ad	bronchial
18	chr5:111269600-111269800	Enhancers	Aorta	Aorta
19	chr5:111269600-111271400	Weak transcription	Osteobl	bone

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