Variant report

Variant	rs72700328
Chromosome Location	chr9:8657677-8657678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:14628744..14629586-chr9:8657312..8657812,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000132002	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10511505	0.81[EUR][1000 genomes]
rs10511506	0.83[ASN][1000 genomes]
rs17652834	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55855913	0.92[EUR][1000 genomes]
rs56003760	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56158447	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66940098	0.86[EUR][1000 genomes]
rs72698229	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72698237	0.90[EUR][1000 genomes]
rs72698246	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72698247	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72698258	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698284	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698291	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698297	0.83[EUR][1000 genomes]
rs72700305	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700307	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700314	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700318	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700332	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700354	0.81[ASN][1000 genomes]
rs72700357	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	nsv892231	chr9:8569186-8659757	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv892232	chr9:8645448-8698875	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv892233	chr9:8645448-8702964	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv892234	chr9:8645448-8703733	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8644400-8660400	Weak transcription	Aorta	Aorta
2	chr9:8649400-8659000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:8652800-8660800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:8652800-8664400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:8652800-8669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:8653800-8660000	Weak transcription	Brain Angular Gyrus	brain
7	chr9:8653800-8660400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:8653800-8664800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:8654000-8658200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:8654000-8659000	Weak transcription	Brain Anterior Caudate	brain
11	chr9:8654000-8659000	Weak transcription	Fetal Brain Male	brain
12	chr9:8654400-8660000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr9:8654400-8660400	Weak transcription	Ovary	ovary
14	chr9:8655600-8659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:8655600-8660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:8656000-8658800	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:8656600-8658800	Weak transcription	Brain Substantia Nigra	brain
18	chr9:8656600-8659000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:8656600-8659200	Weak transcription	Primary hematopoietic stem cells	blood

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