Variant report

Variant	rs12379484
Chromosome Location	chr9:72184734-72184735
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11139473	0.83[ASN][1000 genomes]
rs72719025	0.96[ASN][1000 genomes]
rs72719028	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853648	0.90[ASN][1000 genomes]
rs7860931	0.83[ASN][1000 genomes]
rs7861901	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][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	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1049390	chr9:72168645-72185751	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72163200-72185600	Weak transcription	Aorta	Aorta
2	chr9:72173800-72188400	Weak transcription	Fetal Lung	lung
3	chr9:72180400-72185000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:72180400-72208400	Weak transcription	Gastric	stomach
5	chr9:72181000-72195000	Weak transcription	Left Ventricle	heart
6	chr9:72181200-72188400	Weak transcription	Liver	Liver
7	chr9:72181400-72193000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:72181600-72185000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:72181800-72185000	Weak transcription	Brain Anterior Caudate	brain
10	chr9:72181800-72188000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:72183800-72185200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:72183800-72185200	Enhancers	Fetal Brain Female	brain
13	chr9:72183800-72185400	Enhancers	Fetal Heart	heart
14	chr9:72183800-72185400	Enhancers	Fetal Muscle Leg	muscle
15	chr9:72183800-72185600	Enhancers	Adipose Nuclei	Adipose
16	chr9:72183800-72186800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:72183800-72189400	Enhancers	NH-A	brain
18	chr9:72184000-72185000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:72184000-72185200	Enhancers	Fetal Brain Male	brain
20	chr9:72184000-72185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:72184000-72186200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:72184000-72186200	Enhancers	HMEC	breast
23	chr9:72184000-72186200	Enhancers	HSMMtube	muscle
24	chr9:72184000-72186200	Enhancers	Osteobl	bone
25	chr9:72184000-72186400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:72184000-72186800	Enhancers	NHEK	skin
27	chr9:72184000-72187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:72184000-72187600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:72184000-72187600	Enhancers	HSMM	muscle
30	chr9:72184000-72187800	Enhancers	NHDF-Ad	bronchial
31	chr9:72184000-72188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:72184200-72185400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:72184200-72185400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr9:72184200-72185800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr9:72184200-72186200	Enhancers	NHLF	lung
36	chr9:72184400-72184800	Weak transcription	Ovary	ovary
37	chr9:72184600-72185000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:72184600-72185400	Enhancers	Brain Germinal Matrix	brain
39	chr9:72184600-72185600	Enhancers	Brain Hippocampus Middle	brain
40	chr9:72184600-72186000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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