Variant report

Variant	rs55912746
Chromosome Location	chr8:104169020-104169021
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	chr8:104167543..104169124-chr8:104174251..104177179,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs62527601	0.91[EUR][1000 genomes]
rs62527602	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527603	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527604	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527609	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527614	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527615	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527634	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994827	0.89[AMR][1000 genomes];1.00[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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104162800-104172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:104164600-104169200	Enhancers	Brain Hippocampus Middle	brain
4	chr8:104165000-104176400	Weak transcription	NHDF-Ad	bronchial
5	chr8:104165000-104176600	Weak transcription	Osteobl	bone
6	chr8:104165400-104170200	Weak transcription	NHLF	lung
7	chr8:104166200-104179800	Weak transcription	Spleen	Spleen
8	chr8:104166400-104169800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:104166400-104170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:104166600-104169200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:104166600-104169200	Enhancers	Brain Anterior Caudate	brain
12	chr8:104166600-104173200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:104166600-104178800	Weak transcription	Fetal Brain Male	brain
14	chr8:104167600-104169200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:104167600-104169200	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:104167600-104169400	Enhancers	Brain Angular Gyrus	brain
17	chr8:104168200-104169400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:104168400-104169200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:104168800-104170400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:104169000-104170200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:104169000-104177000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:104169000-104177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:104169000-104177000	Weak transcription	Brain Substantia Nigra	brain

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