Variant report

Variant	rs73110513
Chromosome Location	chr5:59814782-59814783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10516153	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878197	1.00[AMR][1000 genomes]
rs16878201	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878203	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878205	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878228	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846458	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846459	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3857233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3857234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4133469	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58709164	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60446062	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093122	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093127	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093135	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093138	0.90[AMR][1000 genomes]
rs73093141	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110519	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110526	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7719584	0.83[AMR][1000 genomes]
rs7723069	1.00[AMR][1000 genomes]
rs7737012	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59804200-59815800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:59806800-59816000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:59810600-59816000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:59812400-59816000	Weak transcription	Right Atrium	heart
5	chr5:59812800-59816800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:59812800-59822400	Weak transcription	Brain Angular Gyrus	brain
7	chr5:59813600-59815200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr5:59813600-59816200	Weak transcription	Placenta	Placenta
9	chr5:59813800-59815600	Flanking Active TSS	GM12878-XiMat	blood
10	chr5:59813800-59817600	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:59814000-59816200	Weak transcription	Spleen	Spleen
12	chr5:59814000-59819600	Enhancers	Colon Smooth Muscle	Colon
13	chr5:59814200-59814800	Weak transcription	Right Ventricle	heart
14	chr5:59814200-59815200	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:59814200-59816000	Weak transcription	Gastric	stomach
16	chr5:59814200-59816000	Weak transcription	Left Ventricle	heart
17	chr5:59814200-59816000	Weak transcription	Pancreas	Pancrea
18	chr5:59814200-59817600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:59814400-59815200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:59814400-59815600	Enhancers	Primary B cells from cord blood	blood
21	chr5:59814400-59816600	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:59814400-59816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:59814600-59815200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:59814600-59816400	Enhancers	Fetal Stomach	stomach

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