Variant report

Variant	rs73399794
Chromosome Location	chr12:105695509-105695510
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:36)

rs_ID	r²[population]
rs17036919	0.87[ASN][1000 genomes]
rs17036923	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2116676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2116677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4372554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57393988	1.00[AMR][1000 genomes]
rs57456392	1.00[AMR][1000 genomes]
rs57877894	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58301361	1.00[AMR][1000 genomes]
rs59811168	1.00[AMR][1000 genomes]
rs60725801	1.00[AMR][1000 genomes]
rs72487518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7296708	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7307834	1.00[AMR][1000 genomes]
rs73395744	1.00[AMR][1000 genomes]
rs73395745	1.00[AMR][1000 genomes]
rs73395746	1.00[AMR][1000 genomes]
rs73395758	1.00[AMR][1000 genomes]
rs73395770	1.00[AMR][1000 genomes]
rs73395771	1.00[AMR][1000 genomes]
rs73395772	1.00[AMR][1000 genomes]
rs73395783	1.00[AMR][1000 genomes]
rs73395785	1.00[AMR][1000 genomes]
rs73399763	1.00[EUR][1000 genomes]
rs73399769	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73399775	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73399778	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73399779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73399781	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73399782	1.00[EUR][1000 genomes]
rs73399787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73401704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73401705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73401708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9668528	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3394212	chr12:105693734-105708035	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	esv3358347	chr12:105693757-105707693	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105692200-105703600	Weak transcription	A549	lung
2	chr12:105692200-105708000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:105695000-105695800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:105695000-105695800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:105695400-105708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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