Variant report

Variant	rs72700372
Chromosome Location	chr9:8694923-8694924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1434266	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72700354	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72700357	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72700370	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72700371	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72700373	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72700374	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8679800-8696400	Weak transcription	Ovary	ovary
2	chr9:8683000-8706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:8683400-8696000	Weak transcription	Fetal Lung	lung
4	chr9:8690400-8695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:8692200-8696200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:8692400-8697000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:8692800-8696000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:8693000-8699600	Enhancers	Primary hematopoietic stem cells	blood
9	chr9:8693200-8695200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:8693400-8695000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:8693400-8706400	Weak transcription	Fetal Brain Male	brain
12	chr9:8693600-8695400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:8693600-8695400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:8693600-8697400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:8693800-8695000	Weak transcription	Brain Angular Gyrus	brain
16	chr9:8693800-8695200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr9:8693800-8696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:8693800-8696000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:8693800-8696600	Weak transcription	Fetal Kidney	kidney
20	chr9:8693800-8696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:8693800-8696800	Weak transcription	Fetal Brain Female	brain
22	chr9:8693800-8697800	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:8693800-8699800	Weak transcription	Brain Anterior Caudate	brain
24	chr9:8693800-8703400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:8693800-8706600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:8694400-8699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:8694800-8695200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:8694800-8695200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:8694800-8695200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:8694800-8695200	Enhancers	Brain Substantia Nigra	brain
31	chr9:8694800-8695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:8694800-8695600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:8694800-8696000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:8694800-8697000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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