Variant report

Variant	rs73083735
Chromosome Location	chr12:30686918-30686919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30659100..30661387-chr12:30684901..30687709,2	K562	blood:
2	chr12:30683267..30686430-chr12:30686853..30688621,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10161082	0.89[EUR][1000 genomes]
rs58736630	0.89[EUR][1000 genomes]
rs58828862	0.86[EUR][1000 genomes]
rs73081831	1.00[AMR][1000 genomes]
rs73081846	1.00[AMR][1000 genomes]
rs73081852	1.00[AMR][1000 genomes]
rs73081855	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73081858	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73081860	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73081870	0.89[EUR][1000 genomes]
rs73081871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081890	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081893	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081894	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081899	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73081901	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083703	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083706	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083710	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083712	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083714	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083721	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083722	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083724	0.86[EUR][1000 genomes]
rs73083728	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083729	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083730	0.86[EUR][1000 genomes]
rs73083733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083737	1.00[EUR][1000 genomes]
rs73083742	1.00[EUR][1000 genomes]
rs73083744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083762	0.90[AFR][1000 genomes];0.89[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv469192	chr12:30678625-30707035	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv558029	chr12:30678625-30707035	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30685600-30687800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:30686000-30689400	Weak transcription	Pancreas	Pancrea
3	chr12:30686200-30687000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:30686200-30687000	Enhancers	Colon Smooth Muscle	Colon
5	chr12:30686200-30687800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30686800-30687000	Enhancers	K562	blood
7	chr12:30686800-30687200	Enhancers	Brain Germinal Matrix	brain
8	chr12:30686800-30687200	Enhancers	Ovary	ovary
9	chr12:30686800-30689400	Weak transcription	Fetal Stomach	stomach
10	chr12:30686800-30690200	Enhancers	Cortex derived primary cultured neurospheres	brain

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