Variant report

Variant	rs72698251
Chromosome Location	chr9:8629499-8629500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:8628676..8630702-chr9:8633940..8636402,2	K562	blood:

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

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

rs_ID	r²[population]
rs56032582	0.84[AMR][1000 genomes]
rs56055933	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72698260	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72698261	0.84[AMR][1000 genomes]
rs72698262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72698283	0.84[AMR][1000 genomes]
rs72698285	0.84[AMR][1000 genomes]
rs72698286	0.91[AMR][1000 genomes]
rs72698287	0.84[AMR][1000 genomes]
rs72698288	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72698289	0.84[AMR][1000 genomes]
rs72698296	0.84[AMR][1000 genomes]
rs72698299	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72698302	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72700303	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72700310	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72700312	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72700313	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72700317	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72700319	1.00[AMR][1000 genomes]
rs72700327	1.00[AMR][1000 genomes]
rs7853846	0.81[AMR][1000 genomes]
rs7864086	0.81[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8615400-8632000	Weak transcription	Fetal Brain Male	brain
2	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
3	chr9:8621800-8629800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:8625400-8636800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:8626800-8631600	Weak transcription	Fetal Brain Female	brain
8	chr9:8627800-8629600	Enhancers	HSMMtube	muscle
9	chr9:8627800-8630400	Enhancers	Brain Angular Gyrus	brain
10	chr9:8628000-8629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:8628000-8630000	Enhancers	Fetal Heart	heart
12	chr9:8628000-8632000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:8628200-8629800	Enhancers	Brain Hippocampus Middle	brain
14	chr9:8628400-8629600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:8628400-8630000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:8628400-8630400	Enhancers	Brain Substantia Nigra	brain
17	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:8628600-8629600	Enhancers	Brain Germinal Matrix	brain
19	chr9:8628600-8630000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:8628600-8631400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:8628600-8637200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:8628800-8629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:8628800-8629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:8628800-8644000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:8628800-8644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:8629000-8632600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:8629000-8633000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:8629200-8629600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:8629200-8630200	Enhancers	Brain Cingulate Gyrus	brain
30	chr9:8629400-8629600	Enhancers	Brain Anterior Caudate	brain
31	chr9:8629400-8629800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:8629400-8634000	Strong transcription	Fetal Lung	lung

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