Variant report

Variant	rs72698293
Chromosome Location	chr9:8643574-8643575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1033125	0.90[EUR][1000 genomes]
rs1033126	0.94[EUR][1000 genomes]
rs1033127	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1033128	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11793328	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795341	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682756	0.91[EUR][1000 genomes]
rs12683602	0.84[EUR][1000 genomes]
rs12686188	0.85[EUR][1000 genomes]
rs12686394	0.85[EUR][1000 genomes]
rs12686827	0.84[EUR][1000 genomes]
rs12686852	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16924692	0.82[EUR][1000 genomes]
rs16928219	0.85[EUR][1000 genomes]
rs16928232	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16928234	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35286414	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3750490	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60519226	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60836031	0.95[EUR][1000 genomes]
rs72698264	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698292	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72698295	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72700308	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72700311	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:17 , 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	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:8628800-8644000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:8628800-8644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:8629800-8651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:8630200-8652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:8631000-8649800	Weak transcription	Ovary	ovary
10	chr9:8633200-8644200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:8634200-8643800	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:8634600-8648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:8638000-8648000	Weak transcription	Fetal Brain Male	brain
14	chr9:8642600-8647800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:8643400-8643600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:8643400-8644000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:8643400-8645000	Enhancers	Fetal Muscle Trunk	muscle

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