Variant report

Variant	rs1412216
Chromosome Location	chr1:56565917-56565918
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11206718	0.84[AFR][1000 genomes]
rs11206736	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11206747	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1156339	0.84[AFR][1000 genomes]
rs12118277	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12121236	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12125033	0.80[AFR][1000 genomes]
rs12125786	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12133795	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12136504	0.84[AFR][1000 genomes]
rs12137066	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12142826	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143504	0.84[AFR][1000 genomes]
rs12143516	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12144217	0.84[AFR][1000 genomes]
rs12145789	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12563043	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12564930	0.84[AFR][1000 genomes]
rs12568575	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1304824	0.80[AFR][1000 genomes]
rs1331854	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1331857	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1331858	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1331859	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41533449	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55695312	0.84[AFR][1000 genomes]
rs61772108	0.92[AFR][1000 genomes]
rs61772129	0.92[AFR][1000 genomes]
rs61772130	0.92[AFR][1000 genomes]
rs6588598	0.84[AFR][1000 genomes]
rs6588599	0.84[AFR][1000 genomes]
rs6702275	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703713	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72675514	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72675530	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72675531	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72675552	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72675557	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72675569	0.80[AFR][1000 genomes]
rs7523524	0.92[AFR][1000 genomes]
rs7547019	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs778125	0.81[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	nsv947488	chr1:56550325-56571505	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1412216	NRD1	cis	cerebellum	SCAN
rs1412216	DMRTB1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56558600-56568000	Enhancers	NHDF-Ad	bronchial
2	chr1:56563400-56566800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:56563800-56566000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:56563800-56566400	Enhancers	Dnd41	blood
5	chr1:56563800-56566400	Enhancers	Osteobl	bone
6	chr1:56564000-56566400	Enhancers	NHLF	lung
7	chr1:56564200-56566000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:56564200-56566200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:56564200-56566400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:56565400-56566400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:56565800-56571200	Weak transcription	Fetal Thymus	thymus

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