Variant report

Variant	rs72744228
Chromosome Location	chr9:108042855-108042856
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108034840..108036346-chr9:108041989..108044497,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10122513	0.92[EUR][1000 genomes]
rs55659643	1.00[AMR][1000 genomes]
rs6479301	0.92[EUR][1000 genomes]
rs6479302	0.92[EUR][1000 genomes]
rs7031663	1.00[EUR][1000 genomes]
rs72742520	1.00[AMR][1000 genomes]
rs72742522	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72742551	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72742562	1.00[EUR][1000 genomes]
rs72744219	0.92[EUR][1000 genomes]
rs72744222	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72744225	0.92[EUR][1000 genomes]
rs72744226	1.00[AMR][1000 genomes]
rs7847744	0.92[EUR][1000 genomes]
rs7847952	0.92[EUR][1000 genomes]
rs7849463	0.92[EUR][1000 genomes]
rs7857088	0.92[EUR][1000 genomes]
rs7860356	0.92[EUR][1000 genomes]
rs7875335	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108021600-108043200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:108022400-108053600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:108022800-108046000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:108023000-108043200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:108023600-108045200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:108027200-108051000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr9:108028400-108053000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:108030000-108045200	Enhancers	Brain Hippocampus Middle	brain
9	chr9:108031200-108045200	Weak transcription	Liver	Liver
10	chr9:108032200-108044200	Weak transcription	Small Intestine	intestine
11	chr9:108032400-108043800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:108033200-108056200	Weak transcription	Primary T cells from cord blood	blood
13	chr9:108033400-108048400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:108033800-108044800	Weak transcription	HepG2	liver
15	chr9:108033800-108049400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:108033800-108052800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:108034000-108049800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:108034200-108053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:108035000-108043200	Weak transcription	Stomach Mucosa	stomach
20	chr9:108036000-108044000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:108037800-108045000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:108038000-108048600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:108038400-108045200	Weak transcription	Fetal Thymus	thymus
24	chr9:108038600-108044600	Enhancers	Brain Angular Gyrus	brain
25	chr9:108039800-108043200	Weak transcription	Pancreas	Pancrea
26	chr9:108039800-108045000	Weak transcription	Fetal Intestine Large	intestine
27	chr9:108039800-108045200	Weak transcription	Fetal Intestine Small	intestine
28	chr9:108039800-108046800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:108040800-108043400	Enhancers	NHEK	skin
30	chr9:108041000-108046000	Weak transcription	Psoas Muscle	Psoas
31	chr9:108041200-108043200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:108041200-108045200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:108041400-108043200	Weak transcription	Brain Anterior Caudate	brain
34	chr9:108041400-108043200	Weak transcription	Left Ventricle	heart
35	chr9:108041400-108045400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:108041800-108043000	Weak transcription	NHDF-Ad	bronchial
37	chr9:108041800-108046400	Enhancers	Brain Substantia Nigra	brain
38	chr9:108042400-108044800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:108042400-108044800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:108042400-108044800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:108042400-108044800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:108042400-108044800	Enhancers	HMEC	breast
43	chr9:108042400-108045000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:108042400-108045600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:108042400-108046400	Enhancers	Brain Cingulate Gyrus	brain
46	chr9:108042600-108043600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:108042800-108043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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