Variant report

Variant	rs2202012
Chromosome Location	chr9:8364462-8364463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10115782	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125894	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10758962	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815824	0.84[ASN][1000 genomes]
rs10815825	0.84[ASN][1000 genomes]
rs10815835	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815836	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815837	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815838	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976964	0.81[ASN][1000 genomes]
rs10976971	0.84[ASN][1000 genomes]
rs10976972	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10976973	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10976979	0.84[ASN][1000 genomes]
rs10976982	0.84[ASN][1000 genomes]
rs10976984	0.84[ASN][1000 genomes]
rs10976994	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10976995	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976996	0.93[EUR][1000 genomes]
rs10976997	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976998	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976999	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977002	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977003	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977004	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977012	1.00[ASN][1000 genomes]
rs10977013	1.00[ASN][1000 genomes]
rs10977015	1.00[ASN][1000 genomes]
rs12057000	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236853	0.81[ASN][1000 genomes]
rs16924677	0.81[ASN][1000 genomes]
rs3736380	0.84[ASN][1000 genomes]
rs3847286	0.84[ASN][1000 genomes]
rs73643611	0.84[ASN][1000 genomes]
rs7859123	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868317	0.81[ASN][1000 genomes]
rs7874090	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875563	0.93[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	nsv892225	chr9:8345072-8379313	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8339600-8397600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:8340200-8366400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:8340400-8364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:8341800-8372600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:8350200-8364600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:8350200-8372400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:8357200-8374200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:8357600-8381800	Weak transcription	Aorta	Aorta
9	chr9:8358600-8366800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:8361400-8401600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:8362200-8366600	Weak transcription	Stomach Mucosa	stomach
12	chr9:8362600-8365000	Weak transcription	Fetal Intestine Large	intestine
13	chr9:8362600-8365000	Weak transcription	Fetal Intestine Small	intestine
14	chr9:8363400-8364800	Enhancers	Fetal Brain Male	brain
15	chr9:8363600-8365600	Enhancers	Brain Angular Gyrus	brain
16	chr9:8364200-8364600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr9:8364200-8364600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr9:8364200-8364600	Weak transcription	Fetal Heart	heart
19	chr9:8364200-8364600	Enhancers	Fetal Lung	lung
20	chr9:8364200-8364800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr9:8364200-8364800	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr9:8364400-8364600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:8364400-8364600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr9:8364400-8364600	Enhancers	Ovary	ovary
25	chr9:8364400-8364800	Enhancers	Brain Germinal Matrix	brain
26	chr9:8364400-8364800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:8364400-8364800	Enhancers	Fetal Brain Female	brain
28	chr9:8364400-8365000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:8364400-8365200	Enhancers	HUVEC	blood vessel
30	chr9:8364400-8366400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr9:8364400-8366600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:8364400-8366800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:8364400-8366800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:8364400-8367200	Enhancers	Dnd41	blood

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