Variant report

Variant	rs28454050
Chromosome Location	chr9:16192333-16192334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:16191835..16192793-chr9:16257298..16257982,2	MCF-7	breast:
2	chr9:16191908..16192691-chr9:16266310..16267154,2	MCF-7	breast:
3	chr9:16191923..16192798-chr9:16648750..16649311,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10113994	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10116579	0.95[EUR][1000 genomes]
rs10122731	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10122861	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10125408	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10962317	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10962318	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12341541	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12348548	0.96[EUR][1000 genomes]
rs12350437	0.80[AMR][1000 genomes]
rs12352516	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55654095	0.87[AFR][1000 genomes]
rs61377525	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7022294	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7028997	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7029038	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7029598	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72712836	0.83[ASN][1000 genomes]
rs7847385	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9406585	0.88[AMR][1000 genomes];0.97[EUR][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	nsv949463	chr9:15970668-16377360	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv429999	chr9:16102066-16389100	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv892639	chr9:16190403-16242088	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16185200-16193600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:16185600-16196400	Weak transcription	Aorta	Aorta
3	chr9:16190000-16193000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:16190600-16193600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:16190600-16193800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:16190800-16193000	Enhancers	Colon Smooth Muscle	Colon
7	chr9:16190800-16193400	Enhancers	Fetal Stomach	stomach
8	chr9:16190800-16193600	Enhancers	NHDF-Ad	bronchial
9	chr9:16190800-16193800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:16190800-16194000	Enhancers	NH-A	brain
11	chr9:16190800-16194400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:16191000-16193200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:16191000-16193600	Enhancers	HSMM	muscle
14	chr9:16191000-16193600	Enhancers	NHLF	lung
15	chr9:16191000-16194200	Enhancers	Fetal Muscle Leg	muscle
16	chr9:16191200-16193200	Enhancers	Hela-S3	cervix
17	chr9:16191200-16193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:16191200-16193400	Enhancers	Rectal Smooth Muscle	rectum
19	chr9:16191200-16193800	Enhancers	HSMMtube	muscle
20	chr9:16191400-16192400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:16191400-16192600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:16191400-16192800	Flanking Active TSS	A549	lung
23	chr9:16191400-16193400	Enhancers	Fetal Lung	lung
24	chr9:16191400-16193800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:16191600-16192400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:16191600-16192800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:16191600-16193800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:16191800-16192400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr9:16191800-16192400	Enhancers	HMEC	breast
30	chr9:16191800-16192600	Enhancers	Fetal Brain Female	brain
31	chr9:16191800-16192800	Enhancers	Fetal Intestine Large	intestine
32	chr9:16191800-16193000	Enhancers	Fetal Intestine Small	intestine
33	chr9:16191800-16193000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr9:16191800-16193400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:16191800-16193400	Enhancers	Fetal Muscle Trunk	muscle
36	chr9:16191800-16193800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:16191800-16193800	Enhancers	Ovary	ovary
38	chr9:16191800-16194000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:16192000-16192400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:16192000-16192400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:16192000-16192400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr9:16192000-16192400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:16192000-16192400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:16192000-16192400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:16192000-16192400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr9:16192000-16192400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr9:16192000-16192400	Enhancers	Liver	Liver
48	chr9:16192000-16192400	Enhancers	Left Ventricle	heart
49	chr9:16192000-16192400	Enhancers	Lung	lung
50	chr9:16192000-16192400	Enhancers	Psoas Muscle	Psoas

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