Variant report

Variant	rs72786291
Chromosome Location	chr5:111306107-111306108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs152291	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs154082	0.84[AMR][1000 genomes]
rs154083	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs154092	0.92[EUR][1000 genomes]
rs154142	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs154143	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1644466	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1677320	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs168876	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs171738	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs173583	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs173900	0.80[EUR][1000 genomes]
rs2201415	1.00[AFR][1000 genomes]
rs248745	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs248746	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs248747	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256036	0.92[EUR][1000 genomes]
rs256037	0.89[EUR][1000 genomes]
rs256046	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26437	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26571	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26572	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26573	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913546	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34929	0.85[EUR][1000 genomes]
rs388450	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs458532	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55684472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55818288	1.00[AFR][1000 genomes]
rs55931388	1.00[AFR][1000 genomes]
rs55948494	1.00[AFR][1000 genomes]
rs55954860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56079425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56266887	1.00[AFR][1000 genomes]
rs696829	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs698403	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72788217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111304600-111308200	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:111304600-111308400	Weak transcription	Fetal Stomach	stomach
3	chr5:111304600-111308400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:111304600-111309000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:111304600-111309400	Weak transcription	NHLF	lung
6	chr5:111304600-111309800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:111304600-111310600	Weak transcription	Right Atrium	heart
8	chr5:111304600-111312000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:111304800-111306200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:111304800-111308400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:111304800-111310600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:111305000-111308400	Weak transcription	Fetal Heart	heart
13	chr5:111305000-111308800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:111305000-111309400	Weak transcription	Osteobl	bone
15	chr5:111305200-111310400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:111305200-111310600	Weak transcription	NHDF-Ad	bronchial
17	chr5:111305400-111308400	Weak transcription	Fetal Lung	lung
18	chr5:111305800-111313400	Weak transcription	Primary B cells from cord blood	blood

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