Variant report

Variant	rs72794308
Chromosome Location	chr5:119964276-119964277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10434768	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10434769	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10463728	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10463729	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10519647	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10519648	0.83[ASN][1000 genomes]
rs1449144	0.91[ASN][1000 genomes]
rs17429630	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17501753	0.91[ASN][1000 genomes]
rs17501872	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17501927	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839246	0.83[ASN][1000 genomes]
rs2122190	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405964	0.91[ASN][1000 genomes]
rs4895274	0.81[ASN][1000 genomes]
rs4895275	0.81[ASN][1000 genomes]
rs56126743	0.96[AMR][1000 genomes]
rs59166325	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60807869	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62377807	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62377808	0.81[ASN][1000 genomes]
rs62377810	0.81[ASN][1000 genomes]
rs62377815	0.81[ASN][1000 genomes]
rs62377816	0.81[ASN][1000 genomes]
rs62377818	0.81[ASN][1000 genomes]
rs62377819	0.81[ASN][1000 genomes]
rs62379788	0.81[ASN][1000 genomes]
rs6871826	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72781609	0.83[ASN][1000 genomes]
rs72792297	0.96[AMR][1000 genomes]
rs72792301	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72794307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794324	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794327	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794329	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794341	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794345	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794351	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72798425	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736461	0.91[ASN][1000 genomes]
rs9285892	0.80[AMR][1000 genomes]
rs9686370	0.80[AMR][1000 genomes]
rs9716009	0.80[AMR][1000 genomes]
rs9764195	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv830464	chr5:119950090-120106717	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119950600-119967400	Weak transcription	Psoas Muscle	Psoas
2	chr5:119952400-119969200	Weak transcription	Aorta	Aorta
3	chr5:119953000-119970600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:119953000-120021800	Weak transcription	HSMMtube	muscle
5	chr5:119955000-119966800	Weak transcription	Fetal Lung	lung
6	chr5:119960600-119967000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:119960800-119967200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:119960800-119979600	Weak transcription	Osteobl	bone
9	chr5:119961400-119966400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:119962200-119980400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:119963000-119966200	Weak transcription	HSMM	muscle
12	chr5:119963400-119967000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:119963400-119969600	Weak transcription	NHDF-Ad	bronchial
14	chr5:119963800-119976400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:119964200-119976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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