Variant report

Variant	rs73225643
Chromosome Location	chr5:111286888-111286889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10060791	0.90[AMR][1000 genomes]
rs10075625	0.90[AMR][1000 genomes]
rs10078382	1.00[ASN][1000 genomes]
rs11738263	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738364	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11745819	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745837	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960552	0.91[EUR][1000 genomes]
rs1389310	0.91[EUR][1000 genomes]
rs1389311	0.91[EUR][1000 genomes]
rs1389312	0.91[EUR][1000 genomes]
rs1493455	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57650449	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57696610	0.81[EUR][1000 genomes]
rs60643360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664517	0.88[EUR][1000 genomes]
rs6862840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225635	0.88[EUR][1000 genomes]
rs73225639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225647	1.00[ASN][1000 genomes]
rs73227423	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704654	1.00[ASN][1000 genomes]
rs7709342	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709768	0.84[EUR][1000 genomes]
rs7719309	0.90[AMR][1000 genomes];0.98[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111283600-111287000	Enhancers	NHDF-Ad	bronchial
2	chr5:111284200-111288800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:111284400-111288800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:111285000-111287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:111285000-111288800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:111285000-111288800	Weak transcription	HSMMtube	muscle
7	chr5:111285000-111288800	Weak transcription	NHLF	lung
8	chr5:111285000-111290600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:111285000-111290600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:111285800-111291600	Enhancers	Osteobl	bone
11	chr5:111286000-111287200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:111286000-111290200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:111286200-111287000	Enhancers	NH-A	brain
14	chr5:111286400-111287000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:111286800-111287000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:111286800-111287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:111286800-111288600	Weak transcription	HSMM	muscle
18	chr5:111286800-111290600	Weak transcription	NHEK	skin

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