Variant report

Variant	rs12150318
Chromosome Location	chr17:50225876-50225877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1503047	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16951051	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17609084	0.84[AFR][1000 genomes]
rs4613111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214398	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9910955	0.83[AFR][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	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12150318	CACNA1G	cis	parietal	SCAN
rs12150318	ANKRD40	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50221000-50228200	Enhancers	NHEK	skin
2	chr17:50222000-50228000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:50222200-50227800	Enhancers	HMEC	breast
4	chr17:50222400-50228000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:50222600-50227600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:50224000-50228000	Enhancers	Hela-S3	cervix
7	chr17:50224600-50226800	Enhancers	NH-A	brain
8	chr17:50225200-50226000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:50225400-50226000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr17:50225400-50226400	Weak transcription	Fetal Muscle Leg	muscle
11	chr17:50225400-50227200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr17:50225800-50226400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:50225800-50226400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links