Variant report

Variant	rs543816128
Chromosome Location	chr7:70596044-70596045
allele	C/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	SP1	chr7:70596017-70596381	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr7:70596027-70596983	H1-hESC	embryonic stem cell:	n/a	chr7:70596110-70596124 chr7:70596272-70596286
3	RAD21	chr7:70596040-70597454	H1-hESC	embryonic stem cell:	n/a	chr7:70596787-70596801
4	SP1	chr7:70595979-70596552	H1-hESC	embryonic stem cell:	n/a	chr7:70596475-70596487
5	REST	chr7:70595904-70597330	H1-neurons	neurons:	n/a	chr7:70596300-70596313 chr7:70596517-70596527 chr7:70596304-70596324

Variant related genes	Relation type
WBSCR17	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3406129	chr7:70595641-70598589	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595600-70596400	Active TSS	Colonic Mucosa	Colon
2	chr7:70595600-70596400	Enhancers	Fetal Heart	heart
3	chr7:70595800-70596200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
4	chr7:70595800-70596200	Enhancers	Stomach Smooth Muscle	stomach
5	chr7:70595800-70596600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:70595800-70596800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:70595800-70596800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:70595800-70597400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:70595800-70597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:70595800-70597800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:70595800-70597800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:70595800-70598600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:70595800-70598800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:70595800-70598800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:70596000-70596200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:70596000-70596200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:70596000-70596200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:70596000-70596200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:70596000-70596200	Enhancers	Adipose Nuclei	Adipose
23	chr7:70596000-70596200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr7:70596000-70596200	Active TSS	Fetal Brain Female	brain
25	chr7:70596000-70596200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:70596000-70596200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:70596000-70596400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:70596000-70596400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr7:70596000-70596400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr7:70596000-70596400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr7:70596000-70596400	Bivalent/Poised TSS	NH-A	brain
32	chr7:70596000-70596600	Flanking Active TSS	Fetal Brain Male	brain
33	chr7:70596000-70596800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:70596000-70596800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:70596000-70596800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:70596000-70596800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr7:70596000-70597000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:70596000-70597000	Active TSS	Placenta Amnion	Placenta Amnion
39	chr7:70596000-70597200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:70596000-70597200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr7:70596000-70597200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:70596000-70597200	Active TSS	Right Ventricle	heart
43	chr7:70596000-70597400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:70596000-70597400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:70596000-70597400	Active TSS	Fetal Lung	lung
46	chr7:70596000-70597600	Active TSS	HSMMtube	muscle
47	chr7:70596000-70598000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:70596000-70598000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr7:70596000-70598200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:70596000-70598200	Active TSS	Psoas Muscle	Psoas

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