Variant report

Variant	rs11169753
Chromosome Location	chr12:51581245-51581246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51474666..51478844-chr12:51578009..51583588,6	MCF-7	breast:
2	chr12:51580860..51582633-chr17:57922811..57925538,2	MCF-7	breast:
3	chr12:51440541..51442704-chr12:51579931..51581494,2	MCF-7	breast:
4	chr12:51565656..51568783-chr12:51579080..51582144,3	K562	blood:
5	chr12:51581106..51583160-chr12:51585274..51587538,3	K562	blood:
6	chr12:51570670..51572206-chr12:51580870..51582491,2	K562	blood:

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000201524	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10876158	1.00[EUR][1000 genomes]
rs12297981	1.00[EUR][1000 genomes]
rs12304834	1.00[EUR][1000 genomes]
rs12310188	1.00[EUR][1000 genomes]
rs12310717	1.00[EUR][1000 genomes]
rs12321105	1.00[EUR][1000 genomes]
rs2359600	1.00[EUR][1000 genomes]
rs2359601	1.00[EUR][1000 genomes]
rs2359602	1.00[EUR][1000 genomes]
rs3951439	1.00[EUR][1000 genomes]
rs57341229	1.00[EUR][1000 genomes]
rs6580825	1.00[EUR][1000 genomes]
rs7134300	1.00[EUR][1000 genomes]
rs7134437	1.00[EUR][1000 genomes]
rs7134808	1.00[EUR][1000 genomes]
rs7138157	1.00[EUR][1000 genomes]
rs7297398	1.00[EUR][1000 genomes]
rs7301520	1.00[EUR][1000 genomes]
rs7342309	1.00[EUR][1000 genomes]
rs7486892	1.00[EUR][1000 genomes]
rs7488776	1.00[EUR][1000 genomes]
rs7971653	1.00[EUR][1000 genomes]
rs7979358	1.00[EUR][1000 genomes]
rs7980682	1.00[EUR][1000 genomes]
rs7980927	1.00[EUR][1000 genomes]
rs9804923	1.00[EUR][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
4	chr12:51574800-51583400	Weak transcription	Aorta	Aorta
5	chr12:51575600-51583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:51575800-51583600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:51577600-51582400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:51577600-51583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:51577800-51582000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:51577800-51583400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:51578000-51582200	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:51578000-51583000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:51578000-51583400	Weak transcription	Left Ventricle	heart
14	chr12:51578000-51583400	Weak transcription	Ovary	ovary
15	chr12:51578000-51583600	Weak transcription	Pancreas	Pancrea
16	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:51578200-51582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:51578200-51582200	Weak transcription	Brain Germinal Matrix	brain
19	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
20	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
21	chr12:51578400-51583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:51579000-51583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:51579400-51581600	Weak transcription	Fetal Brain Female	brain
24	chr12:51579600-51583600	Enhancers	Fetal Thymus	thymus
25	chr12:51580000-51581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:51580000-51581600	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:51580000-51581600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:51580200-51581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:51580200-51581400	Enhancers	Spleen	Spleen
30	chr12:51580200-51581600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:51580200-51581800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:51580200-51582200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:51580200-51582200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:51580200-51582200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:51580200-51582600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:51580200-51583200	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:51580200-51583400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:51580200-51583400	Weak transcription	Right Ventricle	heart
39	chr12:51580400-51581400	Enhancers	Psoas Muscle	Psoas
40	chr12:51580400-51583400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:51580400-51583600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:51580400-51592000	Weak transcription	Gastric	stomach
43	chr12:51580600-51581800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:51580600-51581800	Enhancers	Fetal Stomach	stomach
45	chr12:51580600-51582200	Bivalent Enhancer	HepG2	liver
46	chr12:51580600-51583400	Weak transcription	Fetal Intestine Small	intestine
47	chr12:51580600-51583800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:51580600-51587800	Weak transcription	Placenta	Placenta
49	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:51580800-51581400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links