Variant report

Variant	rs73450482
Chromosome Location	chr9:72578849-72578850
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57487437	1.00[AMR][1000 genomes]
rs58066803	1.00[AMR][1000 genomes]
rs58989907	1.00[AMR][1000 genomes]
rs73446707	1.00[AMR][1000 genomes]
rs73446714	1.00[AMR][1000 genomes]
rs73446729	1.00[AMR][1000 genomes]
rs73446732	1.00[AMR][1000 genomes]
rs73446741	1.00[AMR][1000 genomes]
rs73450492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452621	1.00[AMR][1000 genomes]
rs73456327	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	nsv1035668	chr9:72555053-72632796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1051004	chr9:72557761-72632015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72576800-72580400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr9:72576800-72580600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:72577000-72580400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr9:72577200-72579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:72577200-72579800	Weak transcription	HMEC	breast
6	chr9:72577200-72580000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:72577200-72584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:72577600-72580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:72577800-72579400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:72577800-72579800	Weak transcription	NHEK	skin
11	chr9:72577800-72580400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr9:72578200-72579000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:72578400-72579000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:72578400-72579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:72578400-72580400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:72578400-72580600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:72578600-72579000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr9:72578600-72579000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr9:72578600-72579000	Active TSS	Brain Anterior Caudate	brain
20	chr9:72578600-72579000	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr9:72578600-72579000	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr9:72578600-72579000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr9:72578600-72579000	Flanking Active TSS	Fetal Brain Female	brain
24	chr9:72578600-72579000	Enhancers	Fetal Lung	lung
25	chr9:72578600-72579200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr9:72578600-72579200	Active TSS	Brain Cingulate Gyrus	brain
27	chr9:72578600-72579200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr9:72578600-72579200	Active TSS	Stomach Smooth Muscle	stomach
29	chr9:72578600-72579200	Enhancers	NH-A	brain
30	chr9:72578600-72579200	Enhancers	NHLF	lung
31	chr9:72578600-72579400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:72578600-72579400	Flanking Active TSS	Fetal Brain Male	brain
33	chr9:72578600-72579600	Enhancers	Ovary	ovary
34	chr9:72578600-72580200	Enhancers	Osteobl	bone
35	chr9:72578600-72580400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:72578600-72580800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:72578800-72579000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr9:72578800-72579000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr9:72578800-72579200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr9:72578800-72579200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr9:72578800-72579200	Active TSS	NHDF-Ad	bronchial
42	chr9:72578800-72579400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:72578800-72579400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:72578800-72579400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr9:72578800-72579800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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