Variant report

Variant	rs60519226
Chromosome Location	chr9:8632944-8632945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1033125	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1033126	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1033127	0.88[EUR][1000 genomes]
rs1033128	0.88[EUR][1000 genomes]
rs11793328	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11795341	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12682756	0.85[EUR][1000 genomes]
rs12683602	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12686394	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12686827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12686852	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1337804	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1361117	0.81[ASN][1000 genomes]
rs16928175	0.82[ASN][1000 genomes]
rs16928179	0.80[ASN][1000 genomes]
rs16928185	0.82[ASN][1000 genomes]
rs16928187	0.82[ASN][1000 genomes]
rs16928206	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16928219	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16928232	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928234	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35286414	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35565936	0.81[ASN][1000 genomes]
rs3750490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56411145	0.81[ASN][1000 genomes]
rs58151168	0.81[ASN][1000 genomes]
rs60836031	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62530700	0.82[ASN][1000 genomes]
rs62530702	0.81[ASN][1000 genomes]
rs62530704	0.81[ASN][1000 genomes]
rs62530705	0.81[ASN][1000 genomes]
rs62530708	0.81[ASN][1000 genomes]
rs62530709	0.81[ASN][1000 genomes]
rs62530710	0.81[ASN][1000 genomes]
rs72698211	0.83[ASN][1000 genomes]
rs72698264	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72698292	0.88[EUR][1000 genomes]
rs72698293	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72698295	0.85[EUR][1000 genomes]
rs72700308	0.88[EUR][1000 genomes]
rs72700311	0.88[EUR][1000 genomes]
rs9792461	0.82[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	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	nsv892230	chr9:8569186-8643259	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
2	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8625400-8636800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:8628600-8637200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:8628800-8644000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:8628800-8644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:8629000-8633000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:8629400-8634000	Strong transcription	Fetal Lung	lung
11	chr9:8629800-8633600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:8629800-8651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:8630000-8640800	Weak transcription	Fetal Heart	heart
14	chr9:8630200-8652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:8630800-8633200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:8631000-8649800	Weak transcription	Ovary	ovary
17	chr9:8631200-8633400	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:8631400-8633600	Enhancers	Brain Substantia Nigra	brain
19	chr9:8631400-8634200	Enhancers	Brain Angular Gyrus	brain
20	chr9:8632000-8633000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:8632000-8635800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:8632000-8636000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:8632600-8633000	Enhancers	Brain Anterior Caudate	brain
24	chr9:8632600-8633000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:8632600-8634200	Enhancers	Brain Hippocampus Middle	brain
26	chr9:8632800-8636800	Weak transcription	Fetal Brain Male	brain

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