Variant report

Variant	rs12367511
Chromosome Location	chr12:59484069-59484070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1023797	0.87[EUR][1000 genomes]
rs11172903	0.92[AFR][1000 genomes]
rs11172904	0.92[AFR][1000 genomes]
rs11172909	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1500033	0.87[EUR][1000 genomes]
rs1500034	0.87[EUR][1000 genomes]
rs17552529	0.92[AFR][1000 genomes]
rs17628272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846623	0.87[EUR][1000 genomes]
rs1846624	0.87[EUR][1000 genomes]
rs36082506	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6581231	0.88[EUR][1000 genomes]
rs6581232	0.88[EUR][1000 genomes]
rs7136863	0.87[EUR][1000 genomes]
rs7952875	0.90[EUR][1000 genomes]
rs7953477	0.90[EUR][1000 genomes]
rs7957634	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs908394	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12367511	DDIT3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
2	chr12:59479000-59494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:59479200-59489600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:59480600-59486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:59480600-59494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:59480800-59487200	Weak transcription	HMEC	breast
7	chr12:59480800-59490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:59481000-59486400	Weak transcription	NHEK	skin
9	chr12:59481400-59486000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:59482600-59484200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:59482800-59486000	Weak transcription	NHDF-Ad	bronchial
12	chr12:59482800-59486200	Weak transcription	NHLF	lung
13	chr12:59483000-59486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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