Variant report

Variant	rs12342244
Chromosome Location	chr9:73568732-73568733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10116690	0.88[EUR][1000 genomes]
rs10120894	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10123027	0.88[EUR][1000 genomes]
rs10511993	0.81[AMR][1000 genomes]
rs12336978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12343924	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12347867	0.93[EUR][1000 genomes]
rs28697055	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56095958	0.81[AMR][1000 genomes]
rs56226184	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73647180	0.88[EUR][1000 genomes]
rs73647181	0.88[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	nsv893441	chr9:73486034-73594114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv430072	chr9:73509677-73640530	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive 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	chr9:73563000-73569000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:73564000-73569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:73566600-73568800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:73566600-73570800	Enhancers	NHDF-Ad	bronchial
5	chr9:73566800-73570400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:73567000-73571000	Enhancers	HSMM	muscle
7	chr9:73567000-73571000	Enhancers	HSMMtube	muscle
8	chr9:73567200-73570000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:73567200-73571200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:73567600-73569000	Weak transcription	Fetal Heart	heart
11	chr9:73567600-73569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:73568000-73570000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:73568200-73571400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:73568400-73569000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:73568400-73570200	Enhancers	Placenta	Placenta
16	chr9:73568400-73570800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:73568400-73570800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr9:73568400-73571000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:73568600-73568800	Flanking Active TSS	NHLF	lung
20	chr9:73568600-73568800	Flanking Active TSS	Osteobl	bone
21	chr9:73568600-73569000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:73568600-73569000	Flanking Active TSS	NH-A	brain
23	chr9:73568600-73569000	Enhancers	NHEK	skin
24	chr9:73568600-73569200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:73568600-73569400	Enhancers	Fetal Brain Male	brain
26	chr9:73568600-73569600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:73568600-73569800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:73568600-73569800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:73568600-73569800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:73568600-73569800	Enhancers	Aorta	Aorta
31	chr9:73568600-73570000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:73568600-73570000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:73568600-73570000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:73568600-73570200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:73568600-73570200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:73568600-73570200	Enhancers	HMEC	breast

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