Variant report

Variant	rs6427046
Chromosome Location	chr1:166894186-166894187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1053407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11582566	0.97[EUR][1000 genomes]
rs2013526	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2014854	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072741	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2075982	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2312238	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs393025	0.82[AMR][1000 genomes]
rs402031	0.84[AMR][1000 genomes]
rs453395	0.85[AMR][1000 genomes]
rs4657614	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6427038	0.85[EUR][1000 genomes]
rs6688277	0.90[EUR][1000 genomes]
rs6690192	0.86[EUR][1000 genomes]
rs7532247	0.81[EUR][1000 genomes]
rs7552562	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs926266	0.84[AMR][1000 genomes];0.84[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6427046	MAEL	cis	Esophagus Muscularis	GTEx
rs6427046	DUTP6	cis	Artery Aorta	GTEx
rs6427046	MAEL	cis	Thyroid	GTEx
rs6427046	MAEL	cis	Nerve Tibial	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166880800-166909600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:166882200-166899600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:166890400-166895200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:166890400-166906600	Weak transcription	Brain Anterior Caudate	brain
5	chr1:166890800-166904400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:166890800-166907400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:166890800-166907600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:166891000-166899200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:166891000-166916400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:166892000-166894600	Weak transcription	Placenta	Placenta
11	chr1:166892000-166913800	Weak transcription	Thymus	Thymus
12	chr1:166892200-166895200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:166892200-166895800	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:166892600-166894400	Weak transcription	Fetal Heart	heart
15	chr1:166892600-166894600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:166892800-166904600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:166893000-166894400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:166893400-166894600	Weak transcription	Left Ventricle	heart
19	chr1:166893600-166896400	Strong transcription	Dnd41	blood
20	chr1:166893800-166895200	Enhancers	GM12878-XiMat	blood
21	chr1:166894000-166894400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:166894000-166895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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