Variant report

Variant	rs72700315
Chromosome Location	chr9:8650768-8650769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1337807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55789848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803510	1.00[AMR][1000 genomes]
rs56032582	1.00[EUR][1000 genomes]
rs56055933	1.00[EUR][1000 genomes]
rs56236902	1.00[EUR][1000 genomes]
rs56272971	1.00[EUR][1000 genomes]
rs56349253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696673	1.00[AMR][1000 genomes]
rs72696686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698226	1.00[EUR][1000 genomes]
rs72698230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698257	1.00[EUR][1000 genomes]
rs72698260	1.00[EUR][1000 genomes]
rs72698261	1.00[EUR][1000 genomes]
rs72698262	1.00[EUR][1000 genomes]
rs72698266	1.00[EUR][1000 genomes]
rs72698268	1.00[EUR][1000 genomes]
rs72698270	1.00[EUR][1000 genomes]
rs72698271	1.00[EUR][1000 genomes]
rs72698274	1.00[EUR][1000 genomes]
rs72698277	1.00[EUR][1000 genomes]
rs72698280	1.00[EUR][1000 genomes]
rs72698282	1.00[EUR][1000 genomes]
rs72698283	1.00[EUR][1000 genomes]
rs72698285	1.00[EUR][1000 genomes]
rs72698286	1.00[EUR][1000 genomes]
rs72698287	1.00[EUR][1000 genomes]
rs72698288	1.00[EUR][1000 genomes]
rs72698289	1.00[EUR][1000 genomes]
rs72698296	1.00[EUR][1000 genomes]
rs72698299	1.00[EUR][1000 genomes]
rs72698302	1.00[EUR][1000 genomes]
rs72700303	1.00[EUR][1000 genomes]
rs72700310	1.00[EUR][1000 genomes]
rs72700312	1.00[EUR][1000 genomes]
rs72700317	1.00[EUR][1000 genomes]
rs72700319	1.00[EUR][1000 genomes]
rs72700321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72700323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72700327	1.00[EUR][1000 genomes]
rs72700338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72700346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72700348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72700365	1.00[AMR][1000 genomes];1.00[EUR][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8629800-8651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:8630200-8652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:8644000-8651800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:8644400-8660400	Weak transcription	Aorta	Aorta
5	chr9:8644600-8651200	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:8645000-8651200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:8645200-8651200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:8647800-8651200	Enhancers	Brain Hippocampus Middle	brain
9	chr9:8647800-8651200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr9:8648000-8651400	Enhancers	Fetal Brain Male	brain
11	chr9:8648200-8652400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:8648400-8651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:8648400-8651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:8649000-8651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:8649000-8652000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:8649400-8650800	Weak transcription	Fetal Heart	heart
17	chr9:8649400-8659000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:8649600-8651000	Weak transcription	Brain Anterior Caudate	brain
19	chr9:8649600-8651200	Weak transcription	Dnd41	blood
20	chr9:8649600-8653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:8650000-8651200	Enhancers	Brain Cingulate Gyrus	brain
22	chr9:8650000-8651200	Enhancers	Brain Germinal Matrix	brain
23	chr9:8650000-8651200	Enhancers	Fetal Brain Female	brain
24	chr9:8650000-8651800	Enhancers	Brain Substantia Nigra	brain
25	chr9:8650000-8654000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:8650200-8651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:8650200-8651800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:8650200-8653600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr9:8650200-8653600	Weak transcription	Ovary	ovary
30	chr9:8650600-8651200	Enhancers	Brain Angular Gyrus	brain

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