Variant report

Variant	rs72794327
Chromosome Location	chr5:119976444-119976445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10434768	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434769	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463728	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10463729	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519647	0.86[ASN][1000 genomes]
rs10519648	0.86[ASN][1000 genomes]
rs1449144	1.00[ASN][1000 genomes]
rs17429630	1.00[ASN][1000 genomes]
rs17501753	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501872	0.88[ASN][1000 genomes]
rs17501927	0.88[ASN][1000 genomes]
rs1839246	0.86[ASN][1000 genomes]
rs2122190	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2405964	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895274	0.83[ASN][1000 genomes]
rs4895275	0.83[ASN][1000 genomes]
rs59166325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60807869	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62377807	0.88[ASN][1000 genomes]
rs62377808	0.83[ASN][1000 genomes]
rs62377810	0.83[ASN][1000 genomes]
rs62377815	0.83[ASN][1000 genomes]
rs62377816	0.83[ASN][1000 genomes]
rs62377818	0.83[ASN][1000 genomes]
rs62377819	0.83[ASN][1000 genomes]
rs62379788	0.83[ASN][1000 genomes]
rs6871826	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781609	0.86[ASN][1000 genomes]
rs72794307	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72794308	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794324	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794329	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794336	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794341	1.00[ASN][1000 genomes]
rs72794345	1.00[ASN][1000 genomes]
rs72794351	1.00[ASN][1000 genomes]
rs72798425	1.00[ASN][1000 genomes]
rs7736461	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv527308	chr5:119966585-119991124	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv830465	chr5:119973839-120151853	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119953000-120021800	Weak transcription	HSMMtube	muscle
2	chr5:119960800-119979600	Weak transcription	Osteobl	bone
3	chr5:119962200-119980400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:119964200-119976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:119967800-119978000	Weak transcription	HSMM	muscle
6	chr5:119967800-119979200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:119967800-120012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119975800-119977200	Enhancers	Fetal Brain Female	brain
9	chr5:119976400-119976600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:119976400-119977400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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