Variant report

Variant	rs559860258
Chromosome Location	chr18:43914909-43914910
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	chr18:43751486..43754394-chr18:43913234..43915228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:113 , 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	chr18:43913000-43916000	Active TSS	Brain Angular Gyrus	brain
4	chr18:43913000-43918000	Active TSS	Fetal Brain Female	brain
5	chr18:43913200-43915400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:43913200-43915400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr18:43913200-43915800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
8	chr18:43913400-43915000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:43913400-43915000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:43913400-43915800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr18:43913400-43915800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr18:43913400-43915800	Active TSS	Colon Smooth Muscle	Colon
13	chr18:43913400-43916000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:43913600-43915000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr18:43913600-43915000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr18:43913600-43915200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:43913600-43915400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr18:43913600-43915400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr18:43913600-43915600	Active TSS	Left Ventricle	heart
20	chr18:43913600-43915800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:43913600-43915800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr18:43913600-43915800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr18:43913600-43915800	Active TSS	Psoas Muscle	Psoas
24	chr18:43913600-43915800	Active TSS	Rectal Smooth Muscle	rectum
25	chr18:43913600-43915800	Active TSS	Hela-S3	cervix
26	chr18:43913600-43916000	Active TSS	Fetal Kidney	kidney
27	chr18:43913600-43916200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr18:43913800-43915000	Active TSS	Fetal Muscle Trunk	muscle
29	chr18:43913800-43915200	Active TSS	Primary T cells from cord blood	blood
30	chr18:43913800-43915200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr18:43913800-43915400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:43913800-43915400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:43913800-43915400	Active TSS	Fetal Lung	lung
34	chr18:43913800-43915600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr18:43913800-43915600	Active TSS	Right Ventricle	heart
36	chr18:43913800-43915800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr18:43913800-43915800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:43913800-43915800	Active TSS	Right Atrium	heart
39	chr18:43913800-43916000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr18:43913800-43916200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr18:43913800-43916200	Active TSS	Brain Anterior Caudate	brain
42	chr18:43913800-43917800	Active TSS	Fetal Brain Male	brain
43	chr18:43914000-43915800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:43914200-43915200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:43914200-43915200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:43914200-43915200	Flanking Active TSS	Lung	lung
47	chr18:43914200-43915400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:43914400-43915000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:43914400-43915000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr18:43914400-43915200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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