Variant report

Variant	rs12115364
Chromosome Location	chr9:8626831-8626832
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10122820	0.80[EUR][1000 genomes]
rs12682677	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12686075	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12686078	0.81[ASN][1000 genomes]
rs1337805	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1415724	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1434264	0.81[EUR][1000 genomes]
rs1434265	0.81[EUR][1000 genomes]
rs1512380	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1512381	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16928221	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs16928238	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2890818	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56150041	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56244411	0.85[AMR][1000 genomes]
rs56883748	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57726817	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59292968	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60499554	0.80[EUR][1000 genomes]
rs60686483	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61002972	0.80[EUR][1000 genomes]
rs67775498	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021243	0.80[EUR][1000 genomes]
rs7030931	0.81[EUR][1000 genomes]
rs7042493	0.81[EUR][1000 genomes]
rs7048587	0.81[EUR][1000 genomes]
rs72698256	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72700324	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72700331	0.85[EUR][1000 genomes]
rs7868744	0.86[AMR][1000 genomes];0.85[EUR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8614400-8627000	Weak transcription	Fetal Lung	lung
2	chr9:8615200-8627200	Weak transcription	Brain Germinal Matrix	brain
3	chr9:8615400-8628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:8615400-8628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:8615400-8632000	Weak transcription	Fetal Brain Male	brain
6	chr9:8615600-8627800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:8615600-8629200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
9	chr9:8620800-8628400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:8621000-8628000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:8621800-8629800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:8622800-8628000	Weak transcription	Fetal Heart	heart
14	chr9:8622800-8629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:8623200-8627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:8624600-8627800	Weak transcription	Brain Angular Gyrus	brain
18	chr9:8624800-8627800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:8624800-8628000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:8625000-8627000	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:8625000-8627800	Weak transcription	Brain Anterior Caudate	brain
22	chr9:8625400-8636800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:8626400-8628000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:8626600-8628200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:8626800-8627200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:8626800-8627800	Enhancers	Brain Substantia Nigra	brain
27	chr9:8626800-8631600	Weak transcription	Fetal Brain Female	brain

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