Variant report

Variant	rs72694758
Chromosome Location	chr9:8510790-8510791
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
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]
rs72693000	1.00[AMR][1000 genomes];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]
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:8 , 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
5	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
6	nsv892229	chr9:8485201-8520366	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	nsv613290	chr9:8501698-8514338	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
2	chr9:8442200-8522200	Weak transcription	Liver	Liver
3	chr9:8483800-8524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:8486000-8519400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:8486000-8522200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:8486200-8517200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:8486200-8522800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:8486200-8523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:8486200-8531600	Weak transcription	Fetal Kidney	kidney
10	chr9:8487000-8521200	Weak transcription	Brain Germinal Matrix	brain
11	chr9:8487000-8521200	Weak transcription	Dnd41	blood
12	chr9:8492400-8528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:8493000-8518000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:8493000-8521200	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:8493200-8523200	Weak transcription	Fetal Stomach	stomach
16	chr9:8493200-8531200	Weak transcription	Fetal Brain Female	brain
17	chr9:8494200-8531200	Weak transcription	Fetal Brain Male	brain
18	chr9:8495000-8517800	Weak transcription	Ovary	ovary
19	chr9:8495600-8520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:8499800-8517600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:8500600-8516800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:8501000-8517600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:8501200-8517200	Weak transcription	Fetal Lung	lung
24	chr9:8501600-8517000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:8509400-8517600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:8509400-8528600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:8509600-8511800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:8509600-8521200	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:8509800-8521200	Weak transcription	Brain Substantia Nigra	brain
30	chr9:8509800-8532800	Weak transcription	Brain Angular Gyrus	brain
31	chr9:8510000-8521200	Weak transcription	Brain Anterior Caudate	brain

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