Variant report

Variant	rs3844050
Chromosome Location	chr12:117879346-117879347
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];0.92[EUR][1000 genomes]
rs10774922	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774923	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774924	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774925	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10850825	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850828	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs11068491	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068503	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs11612731	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844049	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844051	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850606	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766851	0.96[CEU][hapmap];0.87[CHB][hapmap];0.92[EUR][1000 genomes]
rs4767540	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767542	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767543	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767544	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767545	0.92[EUR][1000 genomes]
rs7306852	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes]
rs7964940	0.94[AMR][1000 genomes];0.98[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
rs3844050	NOS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117874400-117880400	Enhancers	Fetal Muscle Leg	muscle
2	chr12:117876600-117879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:117877400-117888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:117877800-117879400	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:117877800-117879600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:117878000-117879600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:117878600-117880000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:117878600-117885800	Weak transcription	Pancreas	Pancrea
9	chr12:117878800-117879600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:117879200-117879600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:117879200-117879600	Enhancers	HSMM	muscle
12	chr12:117879200-117880000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:117879200-117880000	Enhancers	Brain Anterior Caudate	brain
14	chr12:117879200-117880000	Enhancers	A549	lung

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