Variant report

Variant	rs1506394
Chromosome Location	chr12:30592453-30592454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61921064	0.80[ASN][1000 genomes]
rs6487912	0.80[ASN][1000 genomes]
rs869416	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1506394	TSPAN11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30589800-30595000	Enhancers	Fetal Stomach	stomach
2	chr12:30590000-30592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:30590000-30592600	Enhancers	Fetal Lung	lung
4	chr12:30590000-30593000	Enhancers	Liver	Liver
5	chr12:30590400-30592600	Enhancers	Stomach Mucosa	stomach
6	chr12:30590400-30593000	Enhancers	Fetal Brain Male	brain
7	chr12:30590400-30593000	Enhancers	Fetal Brain Female	brain
8	chr12:30590800-30596400	Weak transcription	Right Atrium	heart
9	chr12:30591200-30594000	Enhancers	Fetal Heart	heart
10	chr12:30591600-30594000	Weak transcription	HepG2	liver
11	chr12:30592400-30592600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:30592400-30592800	Enhancers	Left Ventricle	heart
13	chr12:30592400-30592800	Enhancers	Lung	lung
14	chr12:30592400-30592800	Enhancers	Pancreas	Pancrea
15	chr12:30592400-30593000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:30592400-30593600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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