Variant report

Variant	rs13180747
Chromosome Location	chr5:54047162-54047163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10051951	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10066710	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10068286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10077272	0.81[EUR][1000 genomes]
rs10078278	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10471398	0.97[ASN][1000 genomes]
rs13168186	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13170741	0.98[ASN][1000 genomes]
rs13187838	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13188578	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13188964	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13189693	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35580743	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292069	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9292070	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13180747	PELO	cis	cerebellum	SCAN
rs13180747	MOCS2	cis	cerebellum	SCAN
rs13180747	GAPT	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54040600-54047400	Weak transcription	Right Atrium	heart
2	chr5:54040600-54050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:54040600-54052400	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:54041200-54051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:54041400-54048600	Weak transcription	HSMMtube	muscle
6	chr5:54041600-54048800	Weak transcription	NHLF	lung
7	chr5:54041800-54048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:54041800-54048800	Weak transcription	Fetal Heart	heart
9	chr5:54041800-54052000	Weak transcription	Placenta	Placenta
10	chr5:54041800-54052200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:54042000-54047400	Weak transcription	NHDF-Ad	bronchial
12	chr5:54042600-54053800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:54044800-54051800	Weak transcription	K562	blood
14	chr5:54044800-54056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:54046800-54047200	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr5:54047000-54047400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	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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