Variant report

Variant	rs12297294
Chromosome Location	chr12:117506663-117506664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11068227	1.00[AMR][1000 genomes]
rs11068229	1.00[AMR][1000 genomes]
rs11068257	1.00[AMR][1000 genomes]
rs11068261	1.00[AMR][1000 genomes]
rs11068291	1.00[AMR][1000 genomes]
rs12296579	1.00[AMR][1000 genomes]
rs12299197	1.00[AMR][1000 genomes]
rs12299208	1.00[AMR][1000 genomes]
rs12303371	1.00[AMR][1000 genomes]
rs12304848	1.00[AMR][1000 genomes]
rs12306116	1.00[AMR][1000 genomes]
rs12307625	1.00[AMR][1000 genomes]
rs12308160	1.00[AMR][1000 genomes]
rs12308162	1.00[AMR][1000 genomes]
rs12309933	1.00[AMR][1000 genomes]
rs12309993	1.00[AMR][1000 genomes]
rs12310473	1.00[AMR][1000 genomes]
rs12311443	1.00[AMR][1000 genomes]
rs12313091	1.00[AMR][1000 genomes]
rs12316781	1.00[AMR][1000 genomes]
rs12319981	1.00[AMR][1000 genomes]
rs12322115	1.00[AMR][1000 genomes]
rs61193113	1.00[AMR][1000 genomes]
rs7300401	1.00[AMR][1000 genomes]
rs7309550	1.00[AMR][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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:117498800-117514600	Strong transcription	HepG2	liver
3	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117499200-117507600	Weak transcription	Right Atrium	heart
5	chr12:117499200-117507800	Weak transcription	Lung	lung
6	chr12:117499600-117506800	Weak transcription	K562	blood
7	chr12:117499600-117512400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:117501000-117507400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:117501200-117510000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:117501600-117514800	Weak transcription	Spleen	Spleen
12	chr12:117502000-117510600	Weak transcription	Thymus	Thymus
13	chr12:117502400-117507000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:117502400-117514600	Weak transcription	Primary T cells from cord blood	blood
15	chr12:117502600-117508000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:117502800-117515000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:117503000-117508000	Weak transcription	GM12878-XiMat	blood
18	chr12:117503000-117514600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:117503200-117507400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:117503200-117515000	Weak transcription	Stomach Mucosa	stomach
21	chr12:117503400-117508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:117503400-117508000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:117503800-117507800	Weak transcription	Pancreas	Pancrea
24	chr12:117504000-117508000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:117504400-117507800	Weak transcription	Fetal Stomach	stomach
26	chr12:117505000-117508000	Weak transcription	Placenta	Placenta
27	chr12:117505400-117507800	Weak transcription	Left Ventricle	heart
28	chr12:117505400-117508000	Weak transcription	Fetal Thymus	thymus
29	chr12:117505400-117514800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:117505600-117508000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:117505600-117508000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:117505800-117514800	Weak transcription	Brain Anterior Caudate	brain
33	chr12:117506000-117509400	Weak transcription	Right Ventricle	heart
34	chr12:117506200-117508000	Strong transcription	Dnd41	blood
35	chr12:117506400-117508000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:117506400-117508200	Enhancers	Primary B cells from cord blood	blood
37	chr12:117506400-117508600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:117506400-117508800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:117506400-117509400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:117506400-117509800	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:117506600-117507200	Flanking Active TSS	Fetal Heart	heart
42	chr12:117506600-117507400	Strong transcription	A549	lung

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