Variant report

Variant	rs2082631
Chromosome Location	chr9:8825124-8825125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13286924	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13292627	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34242138	0.81[AMR][1000 genomes]
rs34965880	0.81[AMR][1000 genomes]
rs35072441	0.83[EUR][1000 genomes]
rs35884503	0.81[AMR][1000 genomes]
rs72704324	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72704326	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72704327	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7870329	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv892235	chr9:8700396-8865925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv892236	chr9:8745520-8870553	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1015898	chr9:8753534-9011443	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv892240	chr9:8796449-8834108	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 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	chr9:8794800-8825600	Weak transcription	Ovary	ovary
2	chr9:8808000-8825600	Weak transcription	Aorta	Aorta
3	chr9:8816600-8825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:8817000-8832000	Weak transcription	Fetal Heart	heart
5	chr9:8817200-8831800	Weak transcription	Fetal Lung	lung
6	chr9:8817600-8826000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:8821400-8835000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:8822000-8825600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:8822200-8838600	Weak transcription	Osteobl	bone
10	chr9:8822400-8827200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:8822800-8825200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:8823000-8825800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:8823000-8826200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:8823000-8835000	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:8823200-8825800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:8823200-8825800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:8823400-8825600	Enhancers	Brain Hippocampus Middle	brain
18	chr9:8823400-8845000	Weak transcription	Fetal Brain Female	brain
19	chr9:8823600-8825400	Weak transcription	Brain Substantia Nigra	brain
20	chr9:8823600-8825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:8823800-8825600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:8823800-8835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:8824000-8826400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:8824000-8826600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:8824200-8825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:8824200-8826600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr9:8824200-8826800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:8824200-8827000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:8824400-8825400	Weak transcription	Liver	Liver
30	chr9:8824400-8825600	Weak transcription	Brain Anterior Caudate	brain
31	chr9:8824400-8828400	Weak transcription	Brain Angular Gyrus	brain
32	chr9:8825000-8825400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:8825000-8825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:8825000-8825600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:8825000-8826000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:8825000-8826200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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