Variant report

Variant	rs7973520
Chromosome Location	chr12:41739317-41739318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12310611	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129305	1.00[EUR][1000 genomes]
rs1918224	1.00[YRI][hapmap];1.00[AFR][1000 genomes];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]
rs59834004	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]
rs74077803	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]
rs74079517	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7973520	RAGE	trans	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41738200-41739600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:41738800-41739400	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr12:41738800-41739600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:41738800-41739600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:41738800-41739600	Active TSS	Brain Angular Gyrus	brain
6	chr12:41738800-41739600	Active TSS	Brain Anterior Caudate	brain
7	chr12:41738800-41739600	Active TSS	Brain Cingulate Gyrus	brain
8	chr12:41738800-41739600	Active TSS	Brain Hippocampus Middle	brain
9	chr12:41738800-41739600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:41738800-41739600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:41738800-41739600	Active TSS	Brain Substantia Nigra	brain
12	chr12:41739000-41739400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:41739000-41739400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:41739000-41739400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:41739000-41739400	Enhancers	Fetal Stomach	stomach
16	chr12:41739000-41739400	Active TSS	HSMM	muscle
17	chr12:41739200-41739600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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