Variant report

Variant	rs547847993
Chromosome Location	chr12:67461533-67461534
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67461087..67461964-chr12:67614042..67614668,2	MCF-7	breast:
2	chr12:67461284..67462231-chr12:67613205..67614026,3	MCF-7	breast:
3	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:
4	chr12:67297865..67298411-chr12:67461007..67461777,2	MCF-7	breast:
5	chr12:67459525..67462456-chr12:67462804..67465110,3	MCF-7	breast:
6	chr12:67441847..67445341-chr12:67460170..67462670,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction
ENSG00000256248	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67460800-67461600	Active TSS	Placenta	Placenta
2	chr12:67461000-67461800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
3	chr12:67461000-67462000	Flanking Active TSS	HMEC	breast
4	chr12:67461000-67462200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:67461000-67462400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:67461200-67461600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:67461200-67461600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:67461200-67461600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
9	chr12:67461200-67461600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr12:67461200-67461600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:67461200-67461600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr12:67461200-67461800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:67461200-67461800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr12:67461200-67461800	Bivalent Enhancer	NH-A	brain
15	chr12:67461200-67462000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:67461200-67462000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:67461200-67462400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr12:67461200-67462400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:67461200-67462400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:67461200-67462400	Flanking Active TSS	Fetal Brain Female	brain
21	chr12:67461200-67463800	Active TSS	Fetal Kidney	kidney
22	chr12:67461400-67461600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:67461400-67461600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:67461400-67461600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr12:67461400-67461600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:67461400-67461600	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:67461400-67461600	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:67461400-67461800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr12:67461400-67461800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:67461400-67461800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr12:67461400-67461800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr12:67461400-67461800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:67461400-67461800	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr12:67461400-67461800	Enhancers	A549	lung
35	chr12:67461400-67462000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:67461400-67462000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:67461400-67462000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:67461400-67462200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr12:67461400-67462200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
40	chr12:67461400-67462200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr12:67461400-67462400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr12:67461400-67462400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:67461400-67462400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
44	chr12:67461400-67462400	Flanking Active TSS	Fetal Brain Male	brain
45	chr12:67461400-67462400	Flanking Active TSS	NHEK	skin
46	chr12:67461400-67462600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr12:67461400-67463600	Active TSS	Colon Smooth Muscle	Colon
48	chr12:67461400-67464000	Active TSS	H9 Cell Line	embryonic stem cell

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