Variant report

Variant	rs4254550
Chromosome Location	chr2:49080055-49080056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10187109	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210521	0.94[ASN][1000 genomes]
rs10210646	0.93[ASN][1000 genomes]
rs10490126	0.91[EUR][1000 genomes]
rs10490127	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12469769	0.95[ASN][1000 genomes]
rs12477968	0.93[ASN][1000 genomes]
rs12478030	0.93[ASN][1000 genomes]
rs13001380	0.83[ASN][1000 genomes]
rs13418054	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17037685	0.94[ASN][1000 genomes]
rs17037688	0.94[ASN][1000 genomes]
rs17037700	0.92[ASN][1000 genomes]
rs17037744	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34307840	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34682390	0.93[ASN][1000 genomes]
rs35457516	0.94[ASN][1000 genomes]
rs35486816	0.94[ASN][1000 genomes]
rs35629921	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3935550	0.81[AFR][1000 genomes]
rs4325806	0.85[ASN][1000 genomes]
rs4462824	0.85[ASN][1000 genomes]
rs4605416	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55649687	0.85[ASN][1000 genomes]
rs55671226	0.87[ASN][1000 genomes]
rs55671322	0.94[ASN][1000 genomes]
rs56146087	0.88[ASN][1000 genomes]
rs56406984	0.88[ASN][1000 genomes]
rs61349130	0.89[ASN][1000 genomes]
rs62137441	0.81[AFR][1000 genomes]
rs62137442	0.98[ASN][1000 genomes]
rs62137443	0.96[ASN][1000 genomes]
rs62137449	0.83[AFR][1000 genomes]
rs62137450	0.83[AFR][1000 genomes]
rs62137451	0.83[AFR][1000 genomes]
rs6419618	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66519107	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6708130	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6755046	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68045719	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72811865	0.88[ASN][1000 genomes]
rs72811866	0.90[ASN][1000 genomes]
rs72811883	0.85[ASN][1000 genomes]
rs72811894	0.88[ASN][1000 genomes]
rs72811897	0.89[ASN][1000 genomes]
rs72811898	0.89[ASN][1000 genomes]
rs72811899	0.92[ASN][1000 genomes]
rs72813703	0.94[ASN][1000 genomes]
rs72813705	0.94[ASN][1000 genomes]
rs72813714	0.96[ASN][1000 genomes]
rs72823278	0.98[ASN][1000 genomes]
rs72823284	0.98[ASN][1000 genomes]
rs72823285	0.94[ASN][1000 genomes]
rs72823286	0.94[ASN][1000 genomes]
rs72825204	0.88[ASN][1000 genomes]
rs733726	0.95[ASN][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	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49072800-49080200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:49076000-49082800	Enhancers	HMEC	breast
4	chr2:49076400-49084800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:49076600-49080400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:49076600-49081200	Enhancers	Osteobl	bone
7	chr2:49078200-49081400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:49078200-49081400	Enhancers	NHLF	lung
9	chr2:49079000-49080400	Weak transcription	NH-A	brain
10	chr2:49079400-49080400	Weak transcription	NHDF-Ad	bronchial
11	chr2:49079400-49080600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:49079400-49082200	Weak transcription	NHEK	skin
13	chr2:49079600-49082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:49079800-49081200	Enhancers	HSMM	muscle
15	chr2:49080000-49080200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:49080000-49080600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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