Variant report

Variant	rs562592070
Chromosome Location	chr5:79331650-79331651
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	TBP	chr5:79331243-79331813	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TRMT112P2	TF binding region
THBS4	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv882219	chr5:79320677-79354147	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882220	chr5:79321439-79335975	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882221	chr5:79321439-79350726	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882222	chr5:79321439-79354147	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv598743	chr5:79329538-79335267	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3423458	chr5:79330021-79332569	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3385040	chr5:79330296-79332294	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv882223	chr5:79330559-79357117	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79330200-79332200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:79330400-79332000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr5:79330400-79332200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:79330600-79331800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:79330600-79331800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:79330600-79331800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr5:79330600-79331800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr5:79330600-79331800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
9	chr5:79330600-79331800	Bivalent Enhancer	Fetal Heart	heart
10	chr5:79330600-79332000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:79330600-79332000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:79330600-79332000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:79330600-79332000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:79330600-79332000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr5:79330600-79332000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr5:79330600-79332000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
17	chr5:79330600-79332000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr5:79330600-79332200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
19	chr5:79330800-79331800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:79330800-79332000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:79330800-79332200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
22	chr5:79330800-79332200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:79330800-79332200	Active TSS	Brain Substantia Nigra	brain
24	chr5:79330800-79332800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:79331000-79331800	Bivalent Enhancer	Fetal Thymus	thymus
26	chr5:79331000-79332200	Bivalent/Poised TSS	Left Ventricle	heart
27	chr5:79331000-79332800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
28	chr5:79331000-79332800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:79331200-79332000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:79331200-79332000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
31	chr5:79331400-79331800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr5:79331600-79331800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:79331600-79331800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:79331600-79331800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:79331600-79331800	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr5:79331600-79332000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr5:79331600-79332000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:79331600-79332200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
39	chr5:79331600-79332200	Active TSS	Right Ventricle	heart

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