Variant report

Variant	rs58121128
Chromosome Location	chr9:72693249-72693250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs58305401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60109285	1.00[AMR][1000 genomes]
rs7025350	1.00[AMR][1000 genomes]
rs73446761	1.00[AMR][1000 genomes]
rs73446770	1.00[AMR][1000 genomes]
rs73446796	1.00[AMR][1000 genomes]
rs73448656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448682	1.00[AMR][1000 genomes]
rs73451417	1.00[AMR][1000 genomes]
rs73451448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452704	1.00[AMR][1000 genomes]
rs73452711	1.00[AMR][1000 genomes]
rs73452717	1.00[AMR][1000 genomes]
rs73452734	1.00[AMR][1000 genomes]
rs73458462	1.00[AMR][1000 genomes]
rs73458478	1.00[AMR][1000 genomes]
rs73458721	1.00[AMR][1000 genomes]
rs73458732	1.00[AMR][1000 genomes]
rs73460504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73460506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73460510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73460516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73460525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650513	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72676600-72694000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:72677600-72694000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:72684800-72694000	Weak transcription	Adipose Nuclei	Adipose
4	chr9:72685000-72694600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:72685200-72695800	Weak transcription	Aorta	Aorta
6	chr9:72685200-72696000	Weak transcription	Right Atrium	heart
7	chr9:72687200-72694800	Strong transcription	HSMMtube	muscle
8	chr9:72688400-72694000	Enhancers	Rectal Smooth Muscle	rectum
9	chr9:72688600-72695200	Weak transcription	HSMM	muscle
10	chr9:72688600-72696400	Enhancers	Ovary	ovary
11	chr9:72688800-72694000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:72688800-72694400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:72689000-72695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:72689200-72694600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:72689400-72696200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:72690200-72694000	Weak transcription	Fetal Lung	lung
17	chr9:72690200-72694200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:72690200-72695200	Enhancers	Colon Smooth Muscle	Colon
19	chr9:72690600-72695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:72690600-72696200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:72691000-72693800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:72691200-72693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:72691400-72693400	Weak transcription	Fetal Stomach	stomach
24	chr9:72691600-72693800	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:72692000-72694400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:72692200-72693800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:72692800-72693800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:72692800-72693800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:72692800-72693800	Weak transcription	Pancreas	Pancrea

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