Variant report

Variant	rs11112191
Chromosome Location	chr12:105187596-105187597
allele	C/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:4)

rs_ID	r²[population]
rs10507182	1.00[CEU][hapmap]
rs11833879	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4603387	0.90[EUR][1000 genomes]
rs9669285	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11112191	C12orf45	cis	cerebellum	SCAN
rs11112191	GNN	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105183000-105189800	Weak transcription	Brain Germinal Matrix	brain
2	chr12:105186000-105187600	Enhancers	Hela-S3	cervix
3	chr12:105186200-105187600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:105186200-105187600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:105186600-105187600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:105187000-105187600	Enhancers	Osteobl	bone
7	chr12:105187000-105189400	Weak transcription	Left Ventricle	heart
8	chr12:105187000-105189400	Weak transcription	Psoas Muscle	Psoas
9	chr12:105187200-105187800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105187200-105188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:105187200-105189200	Weak transcription	Aorta	Aorta
12	chr12:105187200-105189400	Weak transcription	Adipose Nuclei	Adipose
13	chr12:105187200-105189400	Weak transcription	Right Atrium	heart
14	chr12:105187200-105189400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:105187400-105188800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:105187400-105189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:105187400-105189400	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:105187400-105191800	Weak transcription	HSMMtube	muscle
19	chr12:105187400-105213600	Weak transcription	Pancreas	Pancrea

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

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