Variant report

Variant	rs529380451
Chromosome Location	chr7:138349586-138349587
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138144628..138146925-chr7:138348716..138351288,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv3325609	chr7:138348437-138351285	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3426851	chr7:138348612-138351035	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138348400-138349600	Active TSS	Primary T cells from cord blood	blood
2	chr7:138348400-138349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:138348400-138349600	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr7:138348400-138349600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:138348400-138349600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr7:138348400-138349600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr7:138348400-138349600	Active TSS	Fetal Intestine Small	intestine
8	chr7:138348400-138349600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:138348400-138350000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:138348400-138350000	Active TSS	Brain Anterior Caudate	brain
11	chr7:138348400-138350000	Active TSS	Brain Hippocampus Middle	brain
12	chr7:138348400-138350000	Active TSS	Brain Substantia Nigra	brain
13	chr7:138348400-138350200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:138348600-138349600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:138348600-138349600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:138348600-138349600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:138348600-138349600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:138348600-138349600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:138348600-138349600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:138348600-138349600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:138348600-138349600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:138348600-138349600	Active TSS	Duodenum Mucosa	Duodenum
23	chr7:138348600-138349600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:138348600-138349600	Flanking Active TSS	Placenta	Placenta
25	chr7:138348600-138349600	Flanking Active TSS	Fetal Thymus	thymus
26	chr7:138348600-138349600	Active TSS	Ovary	ovary
27	chr7:138348600-138349600	Active TSS	Right Ventricle	heart
28	chr7:138348600-138350000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:138348600-138350200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:138348800-138349600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:138348800-138349600	Active TSS	Fetal Brain Female	brain
32	chr7:138348800-138349600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr7:138348800-138350000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:138348800-138350000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:138348800-138350000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:138348800-138350000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:138348800-138350000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:138349000-138349600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:138349000-138349600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:138349000-138349600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr7:138349000-138349600	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr7:138349000-138349600	Flanking Active TSS	Pancreas	Pancrea
43	chr7:138349200-138349600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:138349200-138349600	Active TSS	Primary hematopoietic stem cells	blood
45	chr7:138349200-138349600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:138349200-138349600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
47	chr7:138349200-138349600	Enhancers	Left Ventricle	heart
48	chr7:138349200-138350000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:138349400-138349600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:138349400-138349600	Active TSS	Primary monocytes fromperipheralblood	blood

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