Variant report

Variant	rs12427193
Chromosome Location	chr12:117532029-117532030
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10850756	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10850757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068314	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068322	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068323	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12366868	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12368978	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12371268	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12425876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59191649	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66832675	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67402554	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959940	0.97[EUR][1000 genomes];0.94[ASN][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117527400-117533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:117528200-117534600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:117528400-117534600	Enhancers	Pancreas	Pancrea
5	chr12:117528800-117536000	Weak transcription	Right Atrium	heart
6	chr12:117529200-117534600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:117529400-117532600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:117529400-117534800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:117529600-117532400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:117529600-117536000	Weak transcription	Lung	lung
11	chr12:117529800-117532600	Enhancers	Gastric	stomach
12	chr12:117529800-117535000	Weak transcription	Spleen	Spleen
13	chr12:117530000-117534400	Weak transcription	A549	lung
14	chr12:117530000-117535000	Weak transcription	K562	blood
15	chr12:117530200-117535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:117530400-117532400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:117531200-117532200	Enhancers	Right Ventricle	heart
18	chr12:117531200-117532600	Genic enhancers	HepG2	liver
19	chr12:117531400-117532600	Enhancers	Fetal Heart	heart
20	chr12:117531400-117532600	Enhancers	Left Ventricle	heart
21	chr12:117531600-117533200	Weak transcription	Dnd41	blood
22	chr12:117531600-117535000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:117531800-117532400	Enhancers	Fetal Thymus	thymus
24	chr12:117532000-117532200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:117532000-117532200	Enhancers	Brain Angular Gyrus	brain
26	chr12:117532000-117532400	Enhancers	Stomach Mucosa	stomach
27	chr12:117532000-117533400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:117532000-117533600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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