Variant report

Variant	rs558371439
Chromosome Location	chr18:43914393-43914394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43751486..43754394-chr18:43913234..43915228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819321	chr18:43909994-43930972	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822108	chr18:43909994-43930972	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3442459	chr18:43912979-43915827	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv828224	chr18:43913680-43915863	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796458	chr18:43913732-43923851	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv576811	chr18:43913732-43930972	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3337984	chr18:43913754-43914852	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1814236	chr18:43913834-43923851	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain
3	chr18:43913000-43914800	Active TSS	Brain Hippocampus Middle	brain
4	chr18:43913000-43916000	Active TSS	Brain Angular Gyrus	brain
5	chr18:43913000-43918000	Active TSS	Fetal Brain Female	brain
6	chr18:43913200-43914400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:43913200-43914800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr18:43913200-43915400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:43913200-43915400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr18:43913200-43915800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr18:43913400-43914400	Bivalent/Poised TSS	HepG2	liver
12	chr18:43913400-43914600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:43913400-43914600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
14	chr18:43913400-43914800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:43913400-43915000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:43913400-43915000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:43913400-43915800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr18:43913400-43915800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr18:43913400-43915800	Active TSS	Colon Smooth Muscle	Colon
20	chr18:43913400-43916000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:43913600-43914600	Active TSS	Aorta	Aorta
22	chr18:43913600-43914600	Bivalent/Poised TSS	Colonic Mucosa	Colon
23	chr18:43913600-43914600	Active TSS	Fetal Heart	heart
24	chr18:43913600-43914600	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr18:43913600-43914800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:43913600-43914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr18:43913600-43914800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:43913600-43914800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr18:43913600-43914800	Active TSS	Brain Substantia Nigra	brain
30	chr18:43913600-43914800	Active TSS	A549	lung
31	chr18:43913600-43915000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr18:43913600-43915000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr18:43913600-43915200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:43913600-43915400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr18:43913600-43915400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr18:43913600-43915600	Active TSS	Left Ventricle	heart
37	chr18:43913600-43915800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:43913600-43915800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr18:43913600-43915800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr18:43913600-43915800	Active TSS	Psoas Muscle	Psoas
41	chr18:43913600-43915800	Active TSS	Rectal Smooth Muscle	rectum
42	chr18:43913600-43915800	Active TSS	Hela-S3	cervix
43	chr18:43913600-43916000	Active TSS	Fetal Kidney	kidney
44	chr18:43913600-43916200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr18:43913800-43914400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
46	chr18:43913800-43914400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:43913800-43914400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:43913800-43914400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr18:43913800-43914400	Active TSS	NH-A	brain
50	chr18:43913800-43914600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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