Variant report

Variant	rs1093307
Chromosome Location	chr12:117925643-117925644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1068942	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1093302	0.81[ASN][1000 genomes]
rs1093305	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1093308	0.94[AMR][1000 genomes];0.91[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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1093307	TPCN1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117920800-117932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:117924000-117925800	Enhancers	HSMMtube	muscle
3	chr12:117924200-117925800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:117924400-117925800	Enhancers	HUVEC	blood vessel
5	chr12:117924600-117931400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:117925000-117925800	Enhancers	Osteobl	bone
7	chr12:117925200-117925800	Flanking Active TSS	A549	lung
8	chr12:117925200-117925800	Enhancers	HSMM	muscle
9	chr12:117925200-117926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:117925400-117925800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:117925400-117925800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:117925400-117933200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:117925600-117926000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:117925600-117926400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:117925600-117928200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:117925600-117932600	Weak transcription	Pancreas	Pancrea
17	chr12:117925600-117933200	Weak transcription	Psoas Muscle	Psoas
18	chr12:117925600-117933200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:117925600-117933400	Weak transcription	H1 Derived Mesenchymal Stem 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