Variant report

Variant	rs56158447
Chromosome Location	chr9:8628605-8628606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10511505	0.90[EUR][1000 genomes]
rs10511506	0.81[EUR][1000 genomes]
rs17573565	0.81[EUR][1000 genomes]
rs17652834	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55855913	0.87[EUR][1000 genomes]
rs56003760	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66940098	0.81[EUR][1000 genomes]
rs72698229	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72698237	0.91[EUR][1000 genomes]
rs72698241	0.91[EUR][1000 genomes]
rs72698246	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698247	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698258	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72698284	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72698291	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72698297	0.92[EUR][1000 genomes]
rs72700305	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72700307	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72700314	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72700318	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72700328	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72700332	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9697029	0.86[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:36 , 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	chr9:8627800-8628800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:8627800-8628800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:8627800-8629000	Enhancers	Brain Anterior Caudate	brain
17	chr9:8627800-8629200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:8627800-8629600	Enhancers	HSMMtube	muscle
19	chr9:8627800-8630400	Enhancers	Brain Angular Gyrus	brain
20	chr9:8628000-8628800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:8628000-8629000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:8628000-8629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:8628000-8630000	Enhancers	Fetal Heart	heart
24	chr9:8628000-8632000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:8628200-8629400	Weak transcription	Fetal Lung	lung
26	chr9:8628200-8629800	Enhancers	Brain Hippocampus Middle	brain
27	chr9:8628400-8629000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:8628400-8629600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:8628400-8630000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr9:8628400-8630400	Enhancers	Brain Substantia Nigra	brain
31	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:8628600-8628800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:8628600-8629600	Enhancers	Brain Germinal Matrix	brain
34	chr9:8628600-8630000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:8628600-8631400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:8628600-8637200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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