Variant report

Variant	rs563863705
Chromosome Location	chr12:67462528-67462529
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:
2	chr12:67441847..67445341-chr12:67460170..67462670,3	MCF-7	breast:
3	chr12:67461965..67464455-chr12:67489883..67491932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257083	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67461200-67463800	Active TSS	Fetal Kidney	kidney
2	chr12:67461400-67462600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr12:67461400-67463600	Active TSS	Colon Smooth Muscle	Colon
4	chr12:67461400-67464000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:67461600-67462600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
6	chr12:67461600-67462800	Bivalent Enhancer	Fetal Thymus	thymus
7	chr12:67461600-67463800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:67461600-67464000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:67461800-67463600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:67461800-67463600	Active TSS	Right Atrium	heart
11	chr12:67461800-67463800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:67461800-67464000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:67461800-67464200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:67461800-67464200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:67462000-67462600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr12:67462000-67462600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:67462000-67462600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:67462000-67462800	Weak transcription	Spleen	Spleen
19	chr12:67462000-67463400	Active TSS	Colonic Mucosa	Colon
20	chr12:67462000-67463600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:67462000-67463600	Active TSS	Primary T cells from cord blood	blood
22	chr12:67462000-67463600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:67462000-67463600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr12:67462000-67463600	Active TSS	HMEC	breast
25	chr12:67462000-67463800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:67462000-67463800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:67462000-67463800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:67462000-67463800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr12:67462000-67463800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:67462000-67463800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:67462000-67463800	Active TSS	HSMM	muscle
32	chr12:67462000-67464000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:67462000-67464200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:67462000-67464200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:67462000-67464200	Active TSS	Brain Angular Gyrus	brain
36	chr12:67462200-67462600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:67462200-67462600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr12:67462200-67462600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr12:67462200-67462600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr12:67462200-67463400	Bivalent/Poised TSS	Thymus	Thymus
41	chr12:67462200-67463600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:67462200-67463600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:67462200-67463600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:67462200-67463600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:67462200-67463600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:67462200-67463600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:67462200-67463600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr12:67462200-67463600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr12:67462200-67463600	Active TSS	Aorta	Aorta
50	chr12:67462200-67463600	Active TSS	Placenta	Placenta

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