Variant report

Variant	rs72786216
Chromosome Location	chr5:119772480-119772481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12654459	0.92[EUR][1000 genomes]
rs12656625	0.92[EUR][1000 genomes]
rs12656626	0.92[EUR][1000 genomes]
rs12658673	0.92[EUR][1000 genomes]
rs12659480	0.91[EUR][1000 genomes]
rs1368190	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432455	0.91[EUR][1000 genomes]
rs1432462	0.83[EUR][1000 genomes]
rs1503928	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17146602	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146632	0.83[EUR][1000 genomes]
rs17421780	0.90[EUR][1000 genomes]
rs17422211	0.91[EUR][1000 genomes]
rs17422462	0.95[EUR][1000 genomes]
rs17424128	0.83[EUR][1000 genomes]
rs17481046	0.90[EUR][1000 genomes]
rs17488124	0.95[EUR][1000 genomes]
rs17489056	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489517	0.83[EUR][1000 genomes]
rs17489671	0.83[EUR][1000 genomes]
rs17489720	0.83[EUR][1000 genomes]
rs1897457	0.91[EUR][1000 genomes]
rs2053007	0.92[EUR][1000 genomes]
rs2116607	0.92[EUR][1000 genomes]
rs2116608	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163674	0.92[EUR][1000 genomes]
rs4895155	0.92[EUR][1000 genomes]
rs4895243	0.91[EUR][1000 genomes]
rs4895244	0.91[EUR][1000 genomes]
rs56398366	0.83[EUR][1000 genomes]
rs57401201	0.83[EUR][1000 genomes]
rs58699148	0.83[EUR][1000 genomes]
rs58831848	0.83[EUR][1000 genomes]
rs60249515	0.83[EUR][1000 genomes]
rs61113370	0.82[EUR][1000 genomes]
rs6595233	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650983	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884101	0.91[EUR][1000 genomes]
rs72784168	0.90[EUR][1000 genomes]
rs72784169	0.90[EUR][1000 genomes]
rs72784172	0.92[EUR][1000 genomes]
rs72784173	0.92[EUR][1000 genomes]
rs72784175	0.91[EUR][1000 genomes]
rs72784183	0.92[EUR][1000 genomes]
rs72784184	0.92[EUR][1000 genomes]
rs72784190	0.94[EUR][1000 genomes]
rs72784191	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784195	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784197	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784200	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784201	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784202	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786208	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786214	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786223	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786224	0.83[EUR][1000 genomes]
rs72786225	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786226	0.95[EUR][1000 genomes]
rs72786229	0.83[EUR][1000 genomes]
rs7730105	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7734475	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119742000-119775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119766800-119775600	Weak transcription	Psoas Muscle	Psoas
3	chr5:119769200-119780800	Weak transcription	HSMM	muscle
4	chr5:119770200-119772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:119772000-119772600	Enhancers	HSMMtube	muscle
6	chr5:119772000-119773800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:119772200-119773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119772200-119777400	Weak transcription	Fetal Heart	heart
9	chr5:119772400-119773400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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