Variant report

Variant	rs3983439
Chromosome Location	chr12:10798875-10798876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083035	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431297	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1073305	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10743912	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743913	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743916	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772340	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10772343	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772344	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772346	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10772347	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10845189	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845192	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845193	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10845194	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845195	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845197	0.87[EUR][1000 genomes]
rs12310398	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12316690	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1989218	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1993498	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2290717	0.86[EUR][1000 genomes]
rs2418087	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2418088	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2418089	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2418090	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2418091	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2418092	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2418093	0.90[EUR][1000 genomes]
rs2418094	0.90[EUR][1000 genomes]
rs2418095	0.90[EUR][1000 genomes]
rs2900513	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3782671	0.89[EUR][1000 genomes]
rs4561286	0.90[EUR][1000 genomes]
rs4763571	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4763573	0.90[EUR][1000 genomes]
rs4763574	0.90[EUR][1000 genomes]
rs4763575	0.90[EUR][1000 genomes]
rs61912160	0.89[EUR][1000 genomes]
rs61912161	0.89[EUR][1000 genomes]
rs61912180	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61912182	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6416268	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488316	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6488317	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71450684	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7307408	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313620	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7350557	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7350597	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7486826	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957041	0.90[EUR][1000 genomes]
rs7969783	0.90[EUR][1000 genomes]
rs7970299	0.90[EUR][1000 genomes]
rs7970568	0.90[EUR][1000 genomes]
rs7971142	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10790600-10799200	Weak transcription	Esophagus	oesophagus
2	chr12:10797400-10800400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr12:10797800-10799000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:10798000-10799800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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