Variant report

Variant	rs10431930
Chromosome Location	chr16:59354452-59354453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1019571	0.88[EUR][1000 genomes]
rs1022099	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1027913	0.89[EUR][1000 genomes]
rs12709025	0.87[EUR][1000 genomes]
rs12921678	0.80[EUR][1000 genomes]
rs12925044	0.85[EUR][1000 genomes]
rs12928697	0.95[EUR][1000 genomes]
rs12929739	0.95[EUR][1000 genomes]
rs1303842	0.96[EUR][1000 genomes]
rs1582588	0.89[EUR][1000 genomes]
rs1593112	0.85[EUR][1000 genomes]
rs1593149	0.86[EUR][1000 genomes]
rs1593151	0.86[EUR][1000 genomes]
rs1610077	0.86[EUR][1000 genomes]
rs1813437	0.85[EUR][1000 genomes]
rs1828344	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1834058	0.87[EUR][1000 genomes]
rs2036805	0.86[EUR][1000 genomes]
rs2036806	0.85[EUR][1000 genomes]
rs2036807	0.96[EUR][1000 genomes]
rs2081226	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2081227	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2089727	0.83[EUR][1000 genomes]
rs2098731	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2406779	0.89[EUR][1000 genomes]
rs34843420	0.89[EUR][1000 genomes]
rs3958621	0.85[EUR][1000 genomes]
rs4146209	0.89[EUR][1000 genomes]
rs4784075	0.86[EUR][1000 genomes]
rs4784076	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4785028	0.86[EUR][1000 genomes]
rs4785029	0.86[EUR][1000 genomes]
rs4785030	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4785034	0.82[EUR][1000 genomes]
rs6500031	0.88[EUR][1000 genomes]
rs6500033	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7195264	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7196150	0.89[EUR][1000 genomes]
rs7198374	0.89[EUR][1000 genomes]
rs7198887	0.84[EUR][1000 genomes]
rs7201230	0.89[EUR][1000 genomes]
rs7202206	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7202693	0.89[EUR][1000 genomes]
rs7204255	0.83[EUR][1000 genomes]
rs8043584	0.88[EUR][1000 genomes]
rs8056029	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927205	0.89[EUR][1000 genomes]
rs9927985	0.87[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
rs10431930	NUDT21	cis	parietal	SCAN
rs10431930	MT1F	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59332000-59362600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:59354200-59355000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr16:59354200-59355200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:59354400-59354800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr16:59354400-59354800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr16:59354400-59354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr16:59354400-59355000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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