Variant report

Variant	rs73123946
Chromosome Location	chr12:62471857-62471858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11609226	1.00[ASN][1000 genomes]
rs11612077	1.00[ASN][1000 genomes]
rs11612171	1.00[ASN][1000 genomes]
rs11615656	1.00[ASN][1000 genomes]
rs11832462	1.00[ASN][1000 genomes]
rs11836702	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11836749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836835	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11837325	1.00[ASN][1000 genomes]
rs11837618	0.82[AFR][1000 genomes]
rs12313846	1.00[ASN][1000 genomes]
rs17656662	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657275	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659212	1.00[ASN][1000 genomes]
rs17713184	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17713527	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17713954	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028727	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892748	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55760731	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68065049	1.00[ASN][1000 genomes]
rs7139338	1.00[ASN][1000 genomes]
rs7296903	1.00[ASN][1000 genomes]
rs7308137	1.00[ASN][1000 genomes]
rs73123987	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73129936	1.00[ASN][1000 genomes]
rs73131820	1.00[ASN][1000 genomes]
rs73131826	1.00[ASN][1000 genomes]
rs73131829	1.00[ASN][1000 genomes]
rs73131836	1.00[ASN][1000 genomes]
rs73133481	1.00[ASN][1000 genomes]
rs73133484	1.00[ASN][1000 genomes]
rs7979000	1.00[ASN][1000 genomes]
rs9669548	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9738227	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9738424	1.00[ASN][1000 genomes]
rs9738426	1.00[ASN][1000 genomes]
rs9739100	1.00[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	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62470600-62472400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:62471400-62472600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:62471400-62472800	Enhancers	Fetal Heart	heart
4	chr12:62471400-62473000	Enhancers	Aorta	Aorta
5	chr12:62471800-62472000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:62471800-62472200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:62471800-62472200	Enhancers	Ovary	ovary
8	chr12:62471800-62472200	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:62471800-62472200	Enhancers	Stomach Smooth Muscle	stomach
10	chr12:62471800-62472400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:62471800-62472600	Enhancers	Colon Smooth Muscle	Colon

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