Variant report

Variant	rs554143
Chromosome Location	chr9:79308422-79308423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79307128..79309630-chr9:79312231..79313981,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10869799	0.81[EUR][1000 genomes]
rs500952	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs505034	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs512110	0.81[EUR][1000 genomes]
rs517634	0.82[EUR][1000 genomes]
rs556725	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs560094	0.81[EUR][1000 genomes]
rs561970	0.81[EUR][1000 genomes]
rs591411	0.82[EUR][1000 genomes]
rs594498	0.82[EUR][1000 genomes]
rs594586	0.82[EUR][1000 genomes]
rs611461	0.82[EUR][1000 genomes]
rs615187	0.81[EUR][1000 genomes]
rs618145	0.82[EUR][1000 genomes]
rs620476	0.81[EUR][1000 genomes]
rs620552	0.81[EUR][1000 genomes]
rs620737	0.82[EUR][1000 genomes]
rs625981	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs626416	0.81[EUR][1000 genomes]
rs646698	0.81[EUR][1000 genomes]
rs650682	0.90[EUR][1000 genomes]
rs677913	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs680729	0.82[EUR][1000 genomes]
rs680775	0.82[EUR][1000 genomes]
rs7033978	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893481	chr9:79304043-79348193	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs554143	PRUNE2	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79300400-79332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:79307200-79308600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:79307200-79308800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:79307400-79308600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:79307400-79308600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:79307400-79309000	Enhancers	Fetal Thymus	thymus
7	chr9:79307400-79310400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:79307400-79315800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:79307400-79317600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:79307600-79308600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:79307600-79308800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:79307600-79312000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:79307600-79312200	Weak transcription	HSMMtube	muscle
14	chr9:79307600-79312400	Weak transcription	Stomach Mucosa	stomach
15	chr9:79307600-79314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:79307600-79314600	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:79307600-79315800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:79307800-79309600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:79307800-79312400	Weak transcription	HSMM	muscle
20	chr9:79307800-79314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:79307800-79314800	Weak transcription	Fetal Brain Female	brain
22	chr9:79307800-79316000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:79308000-79308800	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:79308000-79309200	Weak transcription	Brain Angular Gyrus	brain
25	chr9:79308000-79314400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:79308000-79315800	Weak transcription	Aorta	Aorta
27	chr9:79308000-79315800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:79308200-79309000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr9:79308400-79314800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:79308400-79314800	Weak transcription	Brain Hippocampus Middle	brain

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