Variant report

Variant	rs806179
Chromosome Location	chr7:127284044-127284045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127282540..127285250-chr7:127290240..127292394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10229165	0.92[EUR][1000 genomes]
rs10229583	0.94[CHB][hapmap]
rs10238047	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10270127	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1440971	0.91[EUR][1000 genomes]
rs6943219	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs6943385	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs6947779	0.86[EUR][1000 genomes]
rs6953134	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs6979634	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs73450923	0.93[EUR][1000 genomes]
rs7778413	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs7781189	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7783478	0.91[EUR][1000 genomes]
rs7784200	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs7792695	0.91[EUR][1000 genomes]
rs7801118	0.85[EUR][1000 genomes]
rs806176	0.89[CHB][hapmap]
rs806178	0.89[CHB][hapmap]
rs806187	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs806179	C7orf54	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127276000-127284400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:127281400-127284800	Enhancers	Placenta	Placenta
3	chr7:127281800-127285600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:127282200-127285800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:127282400-127284600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:127282600-127284400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:127283000-127291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:127283400-127288400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:127283600-127284600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:127283600-127285600	Enhancers	Adipose Nuclei	Adipose
11	chr7:127283800-127284400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:127283800-127284600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:127284000-127284400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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