Variant report

Variant	rs12338417
Chromosome Location	chr9:73206574-73206575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72978429..72981216-chr9:73204901..73207733,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10125964	1.00[EUR][1000 genomes]
rs12338416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341748	0.85[EUR][1000 genomes]
rs12347269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12351775	0.85[EUR][1000 genomes]
rs72718979	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7873981	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831616	chr9:73077855-73220928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv614598	chr9:73193371-73218656	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73189600-73213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73200200-73207800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:73200600-73206800	Enhancers	Colon Smooth Muscle	Colon
4	chr9:73201200-73216200	Weak transcription	Lung	lung
5	chr9:73203000-73215200	Weak transcription	Fetal Brain Male	brain
6	chr9:73204600-73206800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:73204600-73207200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:73204600-73215200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:73205000-73206600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:73205000-73207000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:73205000-73209400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:73205000-73209400	Weak transcription	HSMMtube	muscle
13	chr9:73205000-73209600	Weak transcription	Brain Anterior Caudate	brain
14	chr9:73205000-73209600	Weak transcription	Left Ventricle	heart
15	chr9:73205000-73209800	Weak transcription	Brain Angular Gyrus	brain
16	chr9:73205000-73215000	Weak transcription	Brain Substantia Nigra	brain
17	chr9:73205000-73215200	Weak transcription	Right Atrium	heart
18	chr9:73205200-73206800	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:73205200-73209200	Weak transcription	HSMM	muscle
20	chr9:73205400-73206600	Enhancers	Osteobl	bone
21	chr9:73205400-73207200	Enhancers	NHDF-Ad	bronchial
22	chr9:73205400-73207800	Weak transcription	Fetal Lung	lung
23	chr9:73205400-73214800	Weak transcription	NH-A	brain
24	chr9:73205400-73215600	Weak transcription	HMEC	breast
25	chr9:73205600-73206600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:73205600-73209800	Weak transcription	Adipose Nuclei	Adipose
27	chr9:73205800-73206600	Enhancers	Aorta	Aorta
28	chr9:73206000-73206600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:73206000-73206800	Weak transcription	Stomach Mucosa	stomach
30	chr9:73206000-73207600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:73206000-73209200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:73206200-73209400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:73206200-73209600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:73206200-73215000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:73206200-73215400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:73206400-73209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:73206400-73209400	Weak transcription	NHLF	lung
38	chr9:73206400-73212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:73206400-73215000	Weak transcription	Rectal Smooth Muscle	rectum

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