Variant report

Variant	rs12686394
Chromosome Location	chr9:8628521-8628522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1033125	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1033126	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1033127	0.85[EUR][1000 genomes]
rs1033128	0.85[EUR][1000 genomes]
rs11793328	0.81[EUR][1000 genomes]
rs11795341	0.81[EUR][1000 genomes]
rs12682756	0.83[EUR][1000 genomes]
rs12682768	0.84[ASN][1000 genomes]
rs12683602	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12685150	0.87[ASN][1000 genomes]
rs12686827	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12686852	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1337804	0.82[AMR][1000 genomes]
rs1361117	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16928175	0.82[ASN][1000 genomes]
rs16928179	0.85[ASN][1000 genomes]
rs16928185	0.82[ASN][1000 genomes]
rs16928187	0.82[ASN][1000 genomes]
rs16928206	0.90[ASN][1000 genomes]
rs16928219	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16928232	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16928234	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35286414	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35565936	0.86[ASN][1000 genomes]
rs3750490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56024760	0.86[ASN][1000 genomes]
rs56025100	0.87[ASN][1000 genomes]
rs56411145	0.86[ASN][1000 genomes]
rs56774055	0.83[ASN][1000 genomes]
rs58151168	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs60519226	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60836031	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62530700	0.82[ASN][1000 genomes]
rs62530702	0.86[ASN][1000 genomes]
rs62530704	0.86[ASN][1000 genomes]
rs62530705	0.86[ASN][1000 genomes]
rs62530706	0.83[ASN][1000 genomes]
rs62530708	0.86[ASN][1000 genomes]
rs62530709	0.86[ASN][1000 genomes]
rs62530710	0.86[ASN][1000 genomes]
rs72698211	0.83[ASN][1000 genomes]
rs72698216	0.88[ASN][1000 genomes]
rs72698264	0.94[EUR][1000 genomes]
rs72698292	0.85[EUR][1000 genomes]
rs72698293	0.85[EUR][1000 genomes]
rs72698295	0.83[EUR][1000 genomes]
rs72700308	0.85[EUR][1000 genomes]
rs72700311	0.85[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8615400-8632000	Weak transcription	Fetal Brain Male	brain
2	chr9:8615600-8629200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
4	chr9:8621800-8629800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:8622800-8629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:8625400-8636800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:8626800-8631600	Weak transcription	Fetal Brain Female	brain
10	chr9:8627200-8628800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:8627600-8629000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:8627600-8629400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:8627600-8629400	Enhancers	NHEK	skin
14	chr9:8627800-8628600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr9:8627800-8628600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr9:8627800-8628800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:8627800-8628800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:8627800-8629000	Enhancers	Brain Anterior Caudate	brain
19	chr9:8627800-8629200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:8627800-8629600	Enhancers	HSMMtube	muscle
21	chr9:8627800-8630400	Enhancers	Brain Angular Gyrus	brain
22	chr9:8628000-8628600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:8628000-8628600	Active TSS	Brain Germinal Matrix	brain
24	chr9:8628000-8628800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:8628000-8629000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:8628000-8629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:8628000-8630000	Enhancers	Fetal Heart	heart
28	chr9:8628000-8632000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:8628200-8628600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:8628200-8628600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr9:8628200-8629400	Weak transcription	Fetal Lung	lung
32	chr9:8628200-8629800	Enhancers	Brain Hippocampus Middle	brain
33	chr9:8628400-8628600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:8628400-8629000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:8628400-8629600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:8628400-8630000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr9:8628400-8630400	Enhancers	Brain Substantia Nigra	brain
38	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle

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