Variant report

Variant	rs60836031
Chromosome Location	chr9:8652831-8652832
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1033125	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1033126	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1033127	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1033128	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11793328	0.91[EUR][1000 genomes]
rs11795341	0.91[EUR][1000 genomes]
rs12682756	0.96[EUR][1000 genomes]
rs12683602	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12686188	0.86[EUR][1000 genomes]
rs12686394	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12686827	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12686852	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1337804	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16924692	0.83[EUR][1000 genomes]
rs16928219	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16928232	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16928234	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35286414	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3750490	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60519226	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72698264	0.86[EUR][1000 genomes]
rs72698292	0.95[EUR][1000 genomes]
rs72698293	0.95[EUR][1000 genomes]
rs72698295	0.93[EUR][1000 genomes]
rs72700308	0.93[EUR][1000 genomes]
rs72700311	0.93[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:33 , 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	chr9:8649600-8653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:8650000-8654000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:8650200-8653600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:8650200-8653600	Weak transcription	Ovary	ovary
7	chr9:8650800-8653200	Enhancers	Fetal Heart	heart
8	chr9:8651200-8653800	Enhancers	Fetal Muscle Leg	muscle
9	chr9:8651200-8654000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:8651600-8653000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:8651600-8653200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:8651600-8653800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:8651800-8653200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:8651800-8654000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:8651800-8654000	Enhancers	Brain Cingulate Gyrus	brain
16	chr9:8652000-8653000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:8652000-8653600	Enhancers	Fetal Lung	lung
18	chr9:8652000-8653800	Enhancers	Brain Angular Gyrus	brain
19	chr9:8652200-8653000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:8652200-8654000	Enhancers	Brain Germinal Matrix	brain
21	chr9:8652400-8653800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:8652400-8654000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:8652400-8654400	Enhancers	Brain Hippocampus Middle	brain
24	chr9:8652600-8653400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:8652600-8653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:8652600-8654000	Enhancers	Brain Anterior Caudate	brain
27	chr9:8652600-8654000	Enhancers	Fetal Brain Male	brain
28	chr9:8652600-8654200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:8652600-8654400	Enhancers	Brain Substantia Nigra	brain
30	chr9:8652800-8654000	Enhancers	Fetal Brain Female	brain
31	chr9:8652800-8660800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:8652800-8664400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:8652800-8669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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