Variant report

Variant	rs12347269
Chromosome Location	chr9:73204096-73204097
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	chr9:73028203..73029988-chr9:73203454..73205453,2	MCF-7	breast:
2	chr9:73197703..73200257-chr9:73201325..73204696,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119138	Chromatin interaction

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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12338417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341748	0.85[EUR][1000 genomes]
rs12351775	0.85[EUR][1000 genomes]
rs72718979	0.89[AFR][1000 genomes];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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73189600-73213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73196800-73204600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:73200000-73205000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr9:73200200-73204200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:73200200-73205000	Enhancers	Right Atrium	heart
6	chr9:73200200-73207800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:73200600-73206800	Enhancers	Colon Smooth Muscle	Colon
8	chr9:73200800-73204600	Enhancers	NHDF-Ad	bronchial
9	chr9:73200800-73205000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:73200800-73205600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr9:73201000-73204600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:73201000-73204800	Enhancers	Rectal Smooth Muscle	rectum
13	chr9:73201200-73204200	Enhancers	Osteobl	bone
14	chr9:73201200-73204600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:73201200-73205400	Enhancers	NH-A	brain
16	chr9:73201200-73206400	Enhancers	NHLF	lung
17	chr9:73201200-73216200	Weak transcription	Lung	lung
18	chr9:73201400-73204200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:73201400-73204200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:73201400-73205600	Enhancers	HUVEC	blood vessel
21	chr9:73201600-73204200	Weak transcription	Fetal Lung	lung
22	chr9:73201600-73205000	Enhancers	Brain Anterior Caudate	brain
23	chr9:73201600-73206400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:73201800-73205200	Enhancers	Brain Hippocampus Middle	brain
25	chr9:73202200-73205000	Enhancers	Left Ventricle	heart
26	chr9:73202200-73205400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:73202200-73205400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:73202400-73204200	Enhancers	Aorta	Aorta
29	chr9:73202600-73204400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:73202600-73204600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:73202800-73204200	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:73202800-73204200	Weak transcription	HSMM	muscle
33	chr9:73202800-73204400	Weak transcription	HSMMtube	muscle
34	chr9:73202800-73205600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr9:73203000-73204200	Enhancers	Stomach Smooth Muscle	stomach
36	chr9:73203000-73204600	Weak transcription	Fetal Brain Female	brain
37	chr9:73203000-73205200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:73203000-73215200	Weak transcription	Fetal Brain Male	brain
39	chr9:73203200-73204600	Weak transcription	Brain Angular Gyrus	brain
40	chr9:73203200-73204600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:73203200-73205000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:73203200-73205000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:73203400-73204600	Weak transcription	Fetal Heart	heart
44	chr9:73203400-73205000	Enhancers	Ovary	ovary
45	chr9:73203400-73205200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:73203400-73205400	Enhancers	HMEC	breast
47	chr9:73203800-73204600	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:73203800-73205000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:73204000-73204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:73204000-73204400	Weak transcription	Psoas Muscle	Psoas

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