Variant report

Variant	rs2185339
Chromosome Location	chr9:73229522-73229523
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:73222069..73224603-chr9:73228006..73230812,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11142508	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142511	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12682832	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3763619	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893440	chr9:73225802-73434585	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73215800-73236800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:73217000-73230200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:73217400-73231200	Weak transcription	Fetal Brain Female	brain
4	chr9:73217400-73233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:73217400-73242400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:73217600-73236400	Weak transcription	Fetal Kidney	kidney
7	chr9:73218000-73229800	Weak transcription	Fetal Brain Male	brain
8	chr9:73223600-73230000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:73224800-73241600	Weak transcription	Ovary	ovary
10	chr9:73225200-73229600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:73225200-73229800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:73225200-73229800	Weak transcription	HSMM	muscle
13	chr9:73225200-73230000	Weak transcription	Right Ventricle	heart
14	chr9:73225400-73229600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:73225600-73230200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:73227200-73230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:73227200-73236600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:73227600-73230000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:73227800-73229800	Enhancers	HSMMtube	muscle
20	chr9:73227800-73230200	Enhancers	Aorta	Aorta
21	chr9:73227800-73231200	Enhancers	Psoas Muscle	Psoas
22	chr9:73227800-73231800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:73228000-73236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:73228200-73235800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:73228200-73236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:73228400-73230800	Enhancers	Left Ventricle	heart
27	chr9:73228400-73231000	Enhancers	Fetal Muscle Leg	muscle
28	chr9:73228400-73231800	Enhancers	Fetal Heart	heart
29	chr9:73228600-73230000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:73228600-73230000	Enhancers	Brain Hippocampus Middle	brain
31	chr9:73228600-73230800	Enhancers	Brain Anterior Caudate	brain
32	chr9:73228800-73229600	Weak transcription	Fetal Lung	lung
33	chr9:73228800-73229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:73228800-73230400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:73228800-73230600	Enhancers	Adipose Nuclei	Adipose
36	chr9:73228800-73230800	Enhancers	Stomach Smooth Muscle	stomach
37	chr9:73228800-73232400	Enhancers	Brain Substantia Nigra	brain
38	chr9:73229000-73230000	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:73229000-73230200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr9:73229200-73229600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:73229200-73230200	Weak transcription	Right Atrium	heart
42	chr9:73229400-73230400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:73229400-73230600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr9:73229400-73231800	Enhancers	Brain Angular Gyrus	brain

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