Variant report

Variant	rs1093310
Chromosome Location	chr12:117923817-117923818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1068941	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1093306	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1093308	0.98[ASN][1000 genomes]
rs1093311	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1093312	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1103035	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv899543	chr12:117882412-117925208	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1093310	TPCN1	cis	cerebellum	SCAN
rs1093310	SRRM4	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117909200-117925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117909200-117925200	Weak transcription	Pancreas	Pancrea
3	chr12:117914600-117924200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:117916200-117925200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:117920800-117932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:117922000-117924000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:117922600-117924800	Flanking Active TSS	A549	lung
8	chr12:117923600-117924000	Enhancers	Psoas Muscle	Psoas
9	chr12:117923800-117924400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:117923800-117925600	Enhancers	NHDF-Ad	bronchial

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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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