Variant report

Variant	rs59843195
Chromosome Location	chr12:11915039-11915040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11905328..11907966-chr12:11912733..11915677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16907514	1.00[AMR][1000 genomes]
rs55977745	1.00[AMR][1000 genomes]
rs56140733	1.00[AMR][1000 genomes]
rs57312986	1.00[AMR][1000 genomes]
rs57699137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833941	1.00[AMR][1000 genomes]
rs57891658	1.00[AMR][1000 genomes]
rs58453187	1.00[AMR][1000 genomes]
rs58842201	1.00[AMR][1000 genomes]
rs59632980	1.00[AMR][1000 genomes]
rs73275248	1.00[AMR][1000 genomes]
rs73290521	1.00[AMR][1000 genomes]
rs73290524	1.00[AMR][1000 genomes]
rs73290599	1.00[AMR][1000 genomes]
rs74060863	1.00[AMR][1000 genomes]
rs74060864	1.00[AMR][1000 genomes]
rs74060865	1.00[AMR][1000 genomes]
rs74060867	1.00[AMR][1000 genomes]
rs74060875	1.00[AMR][1000 genomes]
rs74060876	1.00[AMR][1000 genomes]
rs74060879	1.00[AMR][1000 genomes]
rs74060881	1.00[AMR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469113	chr12:11913360-11931259	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv557574	chr12:11913360-11931259	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11904000-11918000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:11905800-11918400	Weak transcription	Fetal Brain Male	brain
3	chr12:11906400-11918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:11907000-11917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:11907600-11918200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:11908000-11918800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:11908200-11918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:11909200-11915800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:11909200-11919400	Weak transcription	Liver	Liver
11	chr12:11909400-11915200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:11909400-11915400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:11909400-11915600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:11909400-11915800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:11909400-11916600	Weak transcription	NHDF-Ad	bronchial
16	chr12:11909600-11915200	Weak transcription	Osteobl	bone
17	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
18	chr12:11909800-11919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:11910600-11916800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:11911000-11915200	Weak transcription	Esophagus	oesophagus
21	chr12:11911800-11915200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:11912000-11916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:11912000-11916600	Weak transcription	Fetal Kidney	kidney
24	chr12:11912000-11917600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:11912000-11918600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:11912400-11915400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:11912400-11916400	Weak transcription	Fetal Lung	lung
28	chr12:11912400-11918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:11912400-11918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:11912400-11918800	Weak transcription	Ovary	ovary
31	chr12:11912800-11916600	Weak transcription	NHLF	lung
32	chr12:11913000-11915600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:11913000-11918000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:11913400-11915200	Weak transcription	Aorta	Aorta
35	chr12:11913400-11919000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:11914200-11916400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:11914200-11918000	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr12:11914200-11919000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:11914200-11919800	Enhancers	Brain Anterior Caudate	brain
40	chr12:11914400-11915600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:11914400-11915600	Genic enhancers	Fetal Muscle Leg	muscle
42	chr12:11914400-11915600	Enhancers	Spleen	Spleen
43	chr12:11914400-11916000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:11914400-11916000	Enhancers	Brain Hippocampus Middle	brain
45	chr12:11914400-11916200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:11914400-11916400	Enhancers	Brain Cingulate Gyrus	brain
47	chr12:11914400-11917000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:11914400-11917200	Enhancers	Brain Substantia Nigra	brain
49	chr12:11914400-11918600	Enhancers	Stomach Smooth Muscle	stomach
50	chr12:11914400-11918800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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