Variant report

Variant	rs190669270
Chromosome Location	chr8:69242763-69242764
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	MAX	chr8:69242668-69243823	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
2	CTCF	chr8:69242740-69242890	HEK293	kidney:	n/a	n/a
3	SIN3A	chr8:69242446-69244878	H1-hESC	embryonic stem cell:	n/a	chr8:69244450-69244464 chr8:69243753-69243764 chr8:69243453-69243464 chr8:69243196-69243205 chr8:69244457-69244470
4	KAP1	chr8:69242465-69243925	HEK293	kidney:	n/a	n/a
5	CHD2	chr8:69242636-69243750	H1-hESC	embryonic stem cell:	n/a	chr8:69243224-69243234 chr8:69243121-69243131
6	TBP	chr8:69242700-69243877	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr8:69242542-69244595	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
8	POLR2A	chr8:69242751-69243023	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr8:69242454-69244094	H1-hESC	embryonic stem cell:	n/a	chr8:69242701-69242710 chr8:69242697-69242712 chr8:69242698-69242712 chr8:69243122-69243134 chr8:69242697-69242712 chr8:69242702-69242713
10	CTCF	chr8:69242660-69242810	NHDF-neo	bronchial:	n/a	n/a
11	CEBPB	chr8:69242704-69243064	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr8:69242603-69243964	H1-hESC	embryonic stem cell:	n/a	chr8:69242701-69242710 chr8:69242697-69242712 chr8:69242698-69242712 chr8:69243122-69243134 chr8:69242697-69242712 chr8:69242702-69242713
13	GABPA	chr8:69242695-69243266	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr8:69242667-69243295	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr8:69242735-69243268	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr8:69242571-69243938	H1-hESC	embryonic stem cell:	n/a	chr8:69243316-69243325 chr8:69243324-69243333
17	RAD21	chr8:69242612-69243897	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr8:69242647-69243935	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr8:69242745-69243950	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C8orf34	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv890979	chr8:69176154-69252417	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890980	chr8:69181681-69252417	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3423266	chr8:69242023-69244571	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69242200-69243000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:69242200-69246200	Active TSS	Brain Anterior Caudate	brain
3	chr8:69242200-69246200	Active TSS	Fetal Brain Female	brain
4	chr8:69242400-69242800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr8:69242400-69242800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:69242400-69242800	Active TSS	Brain Cingulate Gyrus	brain
7	chr8:69242400-69243000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:69242400-69243400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:69242400-69243400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:69242400-69243400	Active TSS	Brain Substantia Nigra	brain
11	chr8:69242400-69243400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr8:69242400-69244200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:69242400-69244200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:69242400-69244800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:69242400-69244800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:69242400-69244800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:69242400-69245000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:69242400-69245000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:69242400-69245000	Active TSS	Brain Angular Gyrus	brain
20	chr8:69242400-69245200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:69242400-69245200	Active TSS	Brain Hippocampus Middle	brain
22	chr8:69242600-69242800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:69242600-69242800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:69242600-69242800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr8:69242600-69242800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr8:69242600-69242800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr8:69242600-69242800	Enhancers	Fetal Brain Male	brain
28	chr8:69242600-69242800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr8:69242600-69242800	Active TSS	Right Atrium	heart
30	chr8:69242600-69242800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
31	chr8:69242600-69242800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:69242600-69242800	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:69242600-69243000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:69242600-69243000	Flanking Active TSS	Esophagus	oesophagus
39	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
40	chr8:69242600-69243000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr8:69242600-69243000	Active TSS	Lung	lung
42	chr8:69242600-69243000	Bivalent/Poised TSS	HMEC	breast
43	chr8:69242600-69243200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:69242600-69243200	Active TSS	Adipose Nuclei	Adipose
45	chr8:69242600-69243200	Bivalent/Poised TSS	NH-A	brain
46	chr8:69242600-69243400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:69242600-69243400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
48	chr8:69242600-69243600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:69242600-69243600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:69242600-69243600	Bivalent/Poised TSS	Left Ventricle	heart

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