Variant report

Variant	rs72694788
Chromosome Location	chr9:8530683-8530684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10120877	1.00[EUR][1000 genomes]
rs10217270	1.00[EUR][1000 genomes]
rs7027214	1.00[EUR][1000 genomes]
rs72696647	1.00[EUR][1000 genomes]
rs72696652	1.00[EUR][1000 genomes]
rs72696654	1.00[EUR][1000 genomes]
rs7864977	1.00[EUR][1000 genomes]
rs7870438	1.00[EUR][1000 genomes]

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	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv831504	chr9:8496277-8665773	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
2	chr9:8486200-8531600	Weak transcription	Fetal Kidney	kidney
3	chr9:8493200-8531200	Weak transcription	Fetal Brain Female	brain
4	chr9:8494200-8531200	Weak transcription	Fetal Brain Male	brain
5	chr9:8509800-8532800	Weak transcription	Brain Angular Gyrus	brain
6	chr9:8518400-8533800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:8518400-8534000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:8518400-8555200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:8519800-8531600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:8520000-8531200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:8522200-8531400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:8522400-8530800	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:8522400-8531600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:8524200-8531600	Weak transcription	Brain Substantia Nigra	brain
15	chr9:8525000-8531600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:8525000-8533200	Weak transcription	Fetal Lung	lung
17	chr9:8526200-8531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:8529000-8531600	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:8529200-8531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:8529200-8532800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:8529400-8531000	Weak transcription	Brain Anterior Caudate	brain
22	chr9:8530000-8534000	Enhancers	Brain Germinal Matrix	brain

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