Variant report

Variant	rs113915366
Chromosome Location	chr7:138349321-138349322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr7:138348977-138349459	MCF-7	breast:	n/a	chr7:138348988-138349002
2	SIN3A	chr7:138348393-138349373	H1-hESC	embryonic stem cell:	n/a	n/a

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
SVOPL	TF binding region
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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138345800-138349400	Enhancers	Fetal Heart	heart
2	chr7:138348400-138349400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:138348400-138349400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:138348400-138349400	Active TSS	Brain Cingulate Gyrus	brain
5	chr7:138348400-138349400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:138348400-138349400	Active TSS	Fetal Kidney	kidney
7	chr7:138348400-138349400	Active TSS	NHEK	skin
8	chr7:138348400-138349600	Active TSS	Primary T cells from cord blood	blood
9	chr7:138348400-138349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:138348400-138349600	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr7:138348400-138349600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:138348400-138349600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:138348400-138349600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr7:138348400-138349600	Active TSS	Fetal Intestine Small	intestine
15	chr7:138348400-138349600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:138348400-138350000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr7:138348400-138350000	Active TSS	Brain Anterior Caudate	brain
18	chr7:138348400-138350000	Active TSS	Brain Hippocampus Middle	brain
19	chr7:138348400-138350000	Active TSS	Brain Substantia Nigra	brain
20	chr7:138348400-138350200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:138348600-138349400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
22	chr7:138348600-138349400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:138348600-138349400	Active TSS	Brain Angular Gyrus	brain
24	chr7:138348600-138349400	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr7:138348600-138349400	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:138348600-138349400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:138348600-138349400	Active TSS	HSMM	muscle
28	chr7:138348600-138349400	Bivalent/Poised TSS	HSMMtube	muscle
29	chr7:138348600-138349400	Active TSS	NH-A	brain
30	chr7:138348600-138349400	Active TSS	Osteobl	bone
31	chr7:138348600-138349600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:138348600-138349600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:138348600-138349600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:138348600-138349600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:138348600-138349600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:138348600-138349600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:138348600-138349600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr7:138348600-138349600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:138348600-138349600	Active TSS	Duodenum Mucosa	Duodenum
40	chr7:138348600-138349600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:138348600-138349600	Flanking Active TSS	Placenta	Placenta
42	chr7:138348600-138349600	Flanking Active TSS	Fetal Thymus	thymus
43	chr7:138348600-138349600	Active TSS	Ovary	ovary
44	chr7:138348600-138349600	Active TSS	Right Ventricle	heart
45	chr7:138348600-138350000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:138348600-138350200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr7:138348800-138349400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:138348800-138349400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:138348800-138349400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr7:138348800-138349400	Transcr. at gene 5' and 3'	Right Atrium	heart

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