Variant report

Variant	rs72698230
Chromosome Location	chr9:8616448-8616449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
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]
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]
rs72700315	1.00[AMR][1000 genomes];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:7 , 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
7	nsv442133	chr9:8615659-8620138	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8586000-8618000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8610600-8616800	Weak transcription	Ovary	ovary
3	chr9:8614400-8627000	Weak transcription	Fetal Lung	lung
4	chr9:8615200-8621200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:8615200-8627200	Weak transcription	Brain Germinal Matrix	brain
6	chr9:8615400-8620000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:8615400-8624000	Weak transcription	Brain Angular Gyrus	brain
8	chr9:8615400-8626600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:8615400-8628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:8615400-8628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:8615400-8632000	Weak transcription	Fetal Brain Male	brain
12	chr9:8615600-8616800	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:8615600-8620800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:8615600-8620800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:8615600-8627800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:8615600-8629200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:8616000-8617400	Enhancers	Fetal Heart	heart
18	chr9:8616200-8617000	Enhancers	NH-A	brain

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