Variant report

Variant	rs72784191
Chromosome Location	chr5:119740560-119740561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:119740392-119740697	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000261036	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs12654459	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12656625	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12656626	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12658673	0.94[EUR][1000 genomes]
rs12659480	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1368190	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432455	0.93[EUR][1000 genomes]
rs1432462	0.85[EUR][1000 genomes]
rs1432463	0.80[EUR][1000 genomes]
rs1503928	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17146602	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146632	0.85[EUR][1000 genomes]
rs17146635	0.81[EUR][1000 genomes]
rs17421780	0.92[EUR][1000 genomes]
rs17422211	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17422462	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17424128	0.85[EUR][1000 genomes]
rs17481046	0.92[EUR][1000 genomes]
rs17488124	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17489056	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489517	0.85[EUR][1000 genomes]
rs17489671	0.85[EUR][1000 genomes]
rs17489720	0.85[EUR][1000 genomes]
rs1897457	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2053007	0.93[EUR][1000 genomes]
rs2116607	0.94[EUR][1000 genomes]
rs2116608	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163674	0.94[EUR][1000 genomes]
rs4895155	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4895243	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4895244	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56398366	0.85[EUR][1000 genomes]
rs57401201	0.85[EUR][1000 genomes]
rs58699148	0.85[EUR][1000 genomes]
rs58831848	0.85[EUR][1000 genomes]
rs60249515	0.85[EUR][1000 genomes]
rs61113370	0.83[EUR][1000 genomes]
rs6595233	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650983	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884101	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72784168	0.92[EUR][1000 genomes]
rs72784169	0.92[EUR][1000 genomes]
rs72784172	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72784173	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72784175	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72784183	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72784184	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72784190	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72784195	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784197	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784200	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784201	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784202	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786208	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786214	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786216	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786223	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786224	0.85[EUR][1000 genomes]
rs72786225	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72786226	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72786229	0.85[EUR][1000 genomes]
rs7730105	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7734475	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119735400-119740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119735800-119744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119739400-119741400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:119739800-119743400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:119740200-119741800	Enhancers	NHLF	lung
6	chr5:119740200-119742000	Enhancers	HUVEC	blood vessel
7	chr5:119740200-119742200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:119740200-119742800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:119740400-119740800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:119740400-119741200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:119740400-119741200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:119740400-119742200	Enhancers	HMEC	breast
13	chr5:119740400-119742200	Enhancers	HSMM	muscle
14	chr5:119740400-119742200	Enhancers	NHDF-Ad	bronchial
15	chr5:119740400-119742200	Enhancers	Osteobl	bone
16	chr5:119740400-119742400	Enhancers	NH-A	brain

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