Variant report

Variant	rs926266
Chromosome Location	chr1:166941586-166941587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1053407	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11582566	0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2013526	0.87[GIH][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs2014854	0.87[GIH][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2072741	0.80[ASW][hapmap];0.92[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2075981	0.86[CHB][hapmap];0.82[CHD][hapmap];0.89[TSI][hapmap]
rs2075982	0.80[ASW][hapmap];0.92[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2312238	0.85[GIH][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2837	0.80[AMR][1000 genomes]
rs393025	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs402031	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs453395	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4657614	0.87[GIH][hapmap];0.85[TSI][hapmap]
rs6427046	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6690192	0.89[TSI][hapmap]
rs7520897	0.88[MKK][hapmap]
rs7552562	0.87[GIH][hapmap];0.91[TSI][hapmap];0.82[AMR][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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs926266	GPR161	cis	cerebellum	SCAN
rs926266	MAEL	cis	Esophagus Muscularis	GTEx
rs926266	ANKRD36BP1	cis	parietal	SCAN
rs926266	TBX19	cis	cerebellum	SCAN
rs926266	MAEL	cis	Nerve Tibial	GTEx
rs926266	MAEL	cis	lymphoblastoid	seeQTL
rs926266	DUSP12	cis	cerebellum	SCAN
rs926266	MAEL	cis	Thyroid	GTEx
rs926266	MAEL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166927400-166941600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:166936600-166941600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:166937600-166942200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:166939200-166943000	Enhancers	Dnd41	blood
5	chr1:166939800-166942000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:166940000-166941600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:166940200-166941800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:166940600-166943000	Enhancers	GM12878-XiMat	blood
9	chr1:166940800-166941800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:166940800-166943400	Weak transcription	Thymus	Thymus
11	chr1:166941000-166942200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:166941400-166941600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr1:166941400-166942000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:166941400-166942800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:166941400-166943800	Enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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