Variant report

Variant	rs1593146
Chromosome Location	chr16:59329191-59329192
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1019571	0.86[EUR][1000 genomes]
rs1027913	0.87[EUR][1000 genomes]
rs12447529	0.84[EUR][1000 genomes]
rs12709025	0.89[EUR][1000 genomes]
rs12921678	0.82[EUR][1000 genomes]
rs12925044	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12929739	0.80[EUR][1000 genomes]
rs1582588	0.86[EUR][1000 genomes]
rs1593112	0.91[EUR][1000 genomes]
rs1593148	0.84[EUR][1000 genomes]
rs1610077	0.88[EUR][1000 genomes]
rs1813437	0.84[EUR][1000 genomes]
rs1834058	0.89[EUR][1000 genomes]
rs1834064	0.82[EUR][1000 genomes]
rs2036805	0.88[EUR][1000 genomes]
rs2036806	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2089727	0.80[EUR][1000 genomes]
rs2406766	0.84[EUR][1000 genomes]
rs2406779	0.87[EUR][1000 genomes]
rs3958621	0.88[EUR][1000 genomes]
rs4146209	0.87[EUR][1000 genomes]
rs4784075	0.85[EUR][1000 genomes]
rs4785028	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4785029	0.88[EUR][1000 genomes]
rs6500029	0.84[EUR][1000 genomes]
rs6500031	0.86[EUR][1000 genomes]
rs7189911	0.83[TSI][hapmap]
rs7196150	0.83[EUR][1000 genomes]
rs7198374	0.86[EUR][1000 genomes]
rs7198887	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7201230	0.87[EUR][1000 genomes]
rs7202693	0.86[EUR][1000 genomes]
rs7204255	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8043584	0.88[EUR][1000 genomes]
rs907053	0.84[EUR][1000 genomes]
rs9927205	0.87[EUR][1000 genomes]
rs9927985	0.89[EUR][1000 genomes]
rs995663	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833249	chr16:59282950-59461023	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv906745	chr16:59323025-59408342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv906746	chr16:59323025-59423982	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1593146	NUDT21	cis	parietal	SCAN
rs1593146	MT1F	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59325200-59329200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:59327400-59329200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:59327400-59329800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr16:59329000-59329400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:59329000-59331200	Enhancers	Fetal Lung	lung

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Input of quick search could be:

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

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