Variant report

Variant	rs74082913
Chromosome Location	chr12:47224799-47224800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47221961..47224924-chr12:47229328..47232260,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58207753	1.00[AFR][1000 genomes]
rs60302941	1.00[AFR][1000 genomes]
rs74082905	1.00[AFR][1000 genomes]
rs74082910	1.00[AFR][1000 genomes]
rs74082924	1.00[AFR][1000 genomes]
rs74086125	1.00[AFR][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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv899054	chr12:47224325-47280079	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47220600-47224800	Weak transcription	HSMM	muscle
2	chr12:47224000-47226400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:47224200-47224800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr12:47224200-47225000	Flanking Active TSS	Liver	Liver
5	chr12:47224200-47225200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr12:47224200-47225200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
7	chr12:47224200-47225800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:47224200-47226000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:47224200-47226400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:47224200-47226400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:47224400-47224800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:47224400-47224800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:47224400-47224800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr12:47224400-47224800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:47224400-47224800	Bivalent Enhancer	Primary T cells from cord blood	blood
16	chr12:47224400-47224800	Bivalent/Poised TSS	Thymus	Thymus
17	chr12:47224400-47224800	Bivalent Enhancer	HMEC	breast
18	chr12:47224400-47224800	Bivalent Enhancer	Osteobl	bone
19	chr12:47224400-47225000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:47224400-47225000	Bivalent Enhancer	Fetal Thymus	thymus
21	chr12:47224400-47225000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr12:47224400-47225000	Flanking Active TSS	NHEK	skin
23	chr12:47224400-47225600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:47224400-47225600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr12:47224400-47225600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:47224400-47225800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr12:47224400-47225800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr12:47224400-47225800	Enhancers	Lung	lung
29	chr12:47224400-47226000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:47224400-47226000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr12:47224400-47226200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr12:47224600-47224800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:47224600-47224800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr12:47224600-47224800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:47224600-47224800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:47224600-47224800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:47224600-47224800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:47224600-47224800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr12:47224600-47224800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:47224600-47224800	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr12:47224600-47224800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:47224600-47224800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr12:47224600-47224800	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr12:47224600-47224800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
45	chr12:47224600-47224800	Bivalent Enhancer	HUVEC	blood vessel
46	chr12:47224600-47224800	Bivalent/Poised TSS	NHDF-Ad	bronchial
47	chr12:47224600-47225000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:47224600-47225000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:47224600-47225000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr12:47224600-47225000	Bivalent Enhancer	Brain Anterior Caudate	brain

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