Variant report

Variant	rs72693000
Chromosome Location	chr9:8479032-8479033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs4625085	1.00[EUR][1000 genomes]
rs55781919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56052876	1.00[EUR][1000 genomes]
rs56172205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56236690	1.00[AMR][1000 genomes]
rs56280254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56284876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56337627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72692978	1.00[EUR][1000 genomes]
rs72694704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694710	1.00[EUR][1000 genomes]
rs72694711	1.00[EUR][1000 genomes]
rs72694713	1.00[AMR][1000 genomes]
rs72694726	1.00[EUR][1000 genomes]
rs72694727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694733	1.00[EUR][1000 genomes]
rs72694735	1.00[EUR][1000 genomes]
rs72694752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694779	1.00[AMR][1000 genomes]
rs72694787	1.00[AMR][1000 genomes]
rs72694796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72694799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696692	1.00[AMR][1000 genomes]
rs9299068	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv892226	chr9:8435525-8522326	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
3	chr9:8424200-8485000	Weak transcription	Fetal Kidney	kidney
4	chr9:8434200-8485200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:8442200-8522200	Weak transcription	Liver	Liver
6	chr9:8448000-8494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:8451400-8492000	Weak transcription	Psoas Muscle	Psoas
8	chr9:8464600-8494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:8465600-8482600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:8465800-8484000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:8468600-8484000	Weak transcription	Ovary	ovary
12	chr9:8471000-8479200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:8473200-8483400	Weak transcription	Fetal Stomach	stomach
14	chr9:8473600-8491600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:8474000-8484000	Weak transcription	Brain Angular Gyrus	brain
16	chr9:8474200-8480000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:8474400-8484800	Weak transcription	Fetal Heart	heart
18	chr9:8474400-8485200	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:8475200-8482600	Weak transcription	Dnd41	blood
20	chr9:8475400-8483400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:8475600-8483400	Weak transcription	Brain Substantia Nigra	brain
22	chr9:8476400-8482200	Weak transcription	Brain Germinal Matrix	brain
23	chr9:8476400-8483400	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:8476400-8483600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:8476600-8482200	Weak transcription	Fetal Brain Male	brain
26	chr9:8476800-8491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:8477000-8482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:8477000-8491600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:8477200-8482200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:8477600-8479200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:8477600-8479400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:8477600-8485000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:8478000-8479200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr9:8478000-8484000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr9:8478000-8487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:8478200-8480200	Weak transcription	Fetal Lung	lung
37	chr9:8478200-8482200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:8478200-8504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:8478400-8488800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:8478800-8479200	Enhancers	Brain Anterior Caudate	brain
41	chr9:8478800-8483800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:8478800-8485000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr9:8478800-8485800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr9:8479000-8482200	Weak transcription	Fetal Brain Female	brain
45	chr9:8479000-8482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:8479000-8491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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