Variant report

Variant	rs1412215
Chromosome Location	chr1:56562921-56562922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10158150	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10888955	0.85[EUR][1000 genomes]
rs11206731	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11206735	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1156337	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1156338	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12025982	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12041298	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12043247	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12131359	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1331855	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1331856	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412217	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1547157	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1998715	0.84[EUR][1000 genomes]
rs2192106	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2211047	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2404391	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2404393	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4926707	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4926708	0.86[EUR][1000 genomes]
rs56845669	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61772104	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6670027	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6673458	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6675451	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6675960	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7525207	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534031	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7551693	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9436997	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs973501	0.84[EUR][1000 genomes];0.81[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1412215	POU3F1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56558600-56563000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56558600-56568000	Enhancers	NHDF-Ad	bronchial
3	chr1:56562200-56563400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:56562200-56563800	Weak transcription	Dnd41	blood
5	chr1:56562400-56564200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:56562400-56564200	Weak transcription	Fetal Stomach	stomach
7	chr1:56562400-56565400	Weak transcription	Fetal Thymus	thymus
8	chr1:56562600-56563800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:56562600-56563800	Weak transcription	Osteobl	bone
10	chr1:56562600-56564000	Weak transcription	NHLF	lung
11	chr1:56562600-56564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:56562600-56564200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:56562600-56565400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56562800-56564200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:56562800-56564200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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