Variant report

Variant	rs116048787
Chromosome Location	chr12:67462187-67462188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67461284..67462231-chr12:67613205..67614026,3	MCF-7	breast:
2	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:
3	chr12:67459525..67462456-chr12:67462804..67465110,3	MCF-7	breast:
4	chr12:67441847..67445341-chr12:67460170..67462670,3	MCF-7	breast:
5	chr12:67461965..67464455-chr12:67489883..67491932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257083	Chromatin interaction
ENSG00000256248	Chromatin interaction
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv3376106	chr12:67461510-67464058	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67461000-67462200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:67461000-67462400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:67461200-67462400	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr12:67461200-67462400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:67461200-67462400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr12:67461200-67462400	Flanking Active TSS	Fetal Brain Female	brain
7	chr12:67461200-67463800	Active TSS	Fetal Kidney	kidney
8	chr12:67461400-67462200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:67461400-67462200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr12:67461400-67462200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:67461400-67462400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr12:67461400-67462400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:67461400-67462400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr12:67461400-67462400	Flanking Active TSS	Fetal Brain Male	brain
15	chr12:67461400-67462400	Flanking Active TSS	NHEK	skin
16	chr12:67461400-67462600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr12:67461400-67463600	Active TSS	Colon Smooth Muscle	Colon
18	chr12:67461400-67464000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:67461600-67462200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:67461600-67462200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:67461600-67462200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr12:67461600-67462200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:67461600-67462200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr12:67461600-67462200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr12:67461600-67462200	Bivalent Enhancer	Fetal Lung	lung
26	chr12:67461600-67462200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr12:67461600-67462200	Enhancers	Gastric	stomach
28	chr12:67461600-67462200	Enhancers	Ovary	ovary
29	chr12:67461600-67462200	Enhancers	Pancreas	Pancrea
30	chr12:67461600-67462200	Enhancers	Psoas Muscle	Psoas
31	chr12:67461600-67462200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr12:67461600-67462400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:67461600-67462400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr12:67461600-67462400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr12:67461600-67462400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr12:67461600-67462600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr12:67461600-67462800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr12:67461600-67463800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:67461600-67464000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:67461800-67462200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr12:67461800-67462200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr12:67461800-67462200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr12:67461800-67462200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:67461800-67462200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:67461800-67462200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:67461800-67462200	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr12:67461800-67462200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr12:67461800-67462200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
49	chr12:67461800-67462200	Enhancers	Right Ventricle	heart
50	chr12:67461800-67462200	Flanking Bivalent TSS/Enh	NH-A	brain

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