Variant report

Variant	rs74079517
Chromosome Location	chr12:41694984-41694985
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12310611	1.00[EUR][1000 genomes]
rs17129305	1.00[EUR][1000 genomes]
rs1918224	1.00[EUR][1000 genomes]
rs56017096	1.00[EUR][1000 genomes]
rs56290808	1.00[EUR][1000 genomes]
rs57395098	1.00[EUR][1000 genomes]
rs57534395	1.00[EUR][1000 genomes]
rs57596398	1.00[EUR][1000 genomes]
rs57905058	1.00[EUR][1000 genomes]
rs58152936	1.00[EUR][1000 genomes]
rs58573939	1.00[EUR][1000 genomes]
rs58740899	1.00[EUR][1000 genomes]
rs59080960	1.00[EUR][1000 genomes]
rs59508383	1.00[EUR][1000 genomes]
rs59662716	1.00[EUR][1000 genomes]
rs60954648	1.00[EUR][1000 genomes]
rs61065876	1.00[EUR][1000 genomes]
rs61200818	1.00[EUR][1000 genomes]
rs73274484	1.00[EUR][1000 genomes]
rs74077504	1.00[EUR][1000 genomes]
rs74077541	1.00[EUR][1000 genomes]
rs74077549	1.00[EUR][1000 genomes]
rs74077579	1.00[EUR][1000 genomes]
rs74077585	1.00[EUR][1000 genomes]
rs74077591	1.00[EUR][1000 genomes]
rs74078811	1.00[EUR][1000 genomes]
rs74078815	1.00[EUR][1000 genomes]
rs74078816	1.00[EUR][1000 genomes]
rs74078827	1.00[EUR][1000 genomes]
rs74078828	1.00[EUR][1000 genomes]
rs74078833	1.00[EUR][1000 genomes]
rs74078836	1.00[EUR][1000 genomes]
rs74078838	1.00[EUR][1000 genomes]
rs74078839	1.00[EUR][1000 genomes]
rs74078840	1.00[EUR][1000 genomes]
rs74078841	1.00[EUR][1000 genomes]
rs74078844	1.00[EUR][1000 genomes]
rs74078850	1.00[EUR][1000 genomes]
rs74078852	1.00[EUR][1000 genomes]
rs74078861	1.00[EUR][1000 genomes]
rs7973520	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41693000-41696200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41693200-41697400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:41694400-41695200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:41694400-41695200	Enhancers	Fetal Heart	heart
5	chr12:41694400-41695200	Enhancers	HepG2	liver
6	chr12:41694400-41698800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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