Variant report

Variant	rs11612731
Chromosome Location	chr12:117876474-117876475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10744897	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs10774922	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774923	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774924	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774925	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10850825	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850828	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs11068491	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068503	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs3844049	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844050	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844051	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850606	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766851	0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs4767540	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767542	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767543	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767544	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767545	0.93[EUR][1000 genomes]
rs7306852	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs7964940	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11612731	NOS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117874200-117876800	Enhancers	Fetal Muscle Trunk	muscle
2	chr12:117874400-117880400	Enhancers	Fetal Muscle Leg	muscle
3	chr12:117875200-117876800	Enhancers	Brain Cingulate Gyrus	brain
4	chr12:117875400-117877800	Enhancers	Brain Angular Gyrus	brain
5	chr12:117875400-117878800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:117875800-117876800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:117875800-117878000	Enhancers	Brain Germinal Matrix	brain
8	chr12:117875800-117878600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:117876000-117876600	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr12:117876000-117876600	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr12:117876000-117876600	Enhancers	Fetal Brain Male	brain
12	chr12:117876200-117876800	Enhancers	Psoas Muscle	Psoas
13	chr12:117876200-117877800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:117876400-117876600	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr12:117876400-117876600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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