Variant report

Variant	rs72954123
Chromosome Location	chr2:100873008-100873009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10169580	1.00[EUR][1000 genomes]
rs10178929	1.00[EUR][1000 genomes]
rs10183462	1.00[EUR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes]
rs10187094	1.00[EUR][1000 genomes]
rs10188619	1.00[EUR][1000 genomes]
rs10190243	1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes]
rs10191655	1.00[EUR][1000 genomes]
rs10193186	1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes]
rs10194280	1.00[EUR][1000 genomes]
rs10197013	1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes]
rs10207091	1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes]
rs1107428	1.00[EUR][1000 genomes]
rs11123831	1.00[EUR][1000 genomes]
rs12329351	1.00[EUR][1000 genomes]
rs13391540	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[EUR][1000 genomes]
rs13416287	1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs13425645	1.00[EUR][1000 genomes]
rs13427376	1.00[EUR][1000 genomes]
rs17023450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28485289	1.00[EUR][1000 genomes]
rs28549897	1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs4597550	1.00[EUR][1000 genomes]
rs56377332	1.00[EUR][1000 genomes]
rs57231149	1.00[EUR][1000 genomes]
rs60292856	1.00[EUR][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes]
rs6542935	1.00[EUR][1000 genomes]
rs6723222	1.00[EUR][1000 genomes]
rs6733677	1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes]
rs6742048	1.00[EUR][1000 genomes]
rs6743560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755284	1.00[EUR][1000 genomes]
rs6759686	1.00[EUR][1000 genomes]
rs72966498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs73968406	1.00[EUR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs7564318	1.00[EUR][1000 genomes]
rs7569334	1.00[EUR][1000 genomes]
rs7585806	1.00[EUR][1000 genomes]
rs9808480	1.00[EUR][1000 genomes]
rs995110	1.00[EUR][1000 genomes]
rs995132	1.00[EUR][1000 genomes]
rs995133	1.00[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100870200-100873200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:100870200-100873200	Weak transcription	Fetal Brain Female	brain
5	chr2:100872800-100873200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:100873000-100873200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:100873000-100873200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr2:100873000-100875000	Enhancers	Fetal Brain Male	brain
9	chr2:100873000-100875200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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