Variant report

Variant	rs73318973
Chromosome Location	chr8:122130304-122130305
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr8:122130286-122130348	HepG2	liver:	n/a	chr8:122130303-122130314

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122127979..122130858-chr8:122131012..122133417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271219	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10505394	1.00[AMR][1000 genomes]
rs16892939	1.00[AMR][1000 genomes]
rs16894726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894789	1.00[AMR][1000 genomes]
rs16894829	1.00[AMR][1000 genomes]
rs16894838	1.00[AMR][1000 genomes]
rs16894879	1.00[AMR][1000 genomes]
rs16894881	1.00[AMR][1000 genomes]
rs16894882	1.00[AMR][1000 genomes]
rs16894884	1.00[AMR][1000 genomes]
rs16894892	1.00[AMR][1000 genomes]
rs16894895	1.00[AMR][1000 genomes]
rs57662055	1.00[AMR][1000 genomes]
rs58961797	1.00[AMR][1000 genomes]
rs59988600	1.00[AMR][1000 genomes]
rs7003818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7004176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318971	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318976	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322914	1.00[AMR][1000 genomes]
rs73322927	1.00[AMR][1000 genomes]
rs73322930	1.00[AMR][1000 genomes]
rs73324903	1.00[AMR][1000 genomes]
rs73324907	1.00[AMR][1000 genomes]
rs73324910	1.00[AMR][1000 genomes]
rs7828556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122123800-122131400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:122126600-122131200	Weak transcription	Fetal Lung	lung
3	chr8:122128000-122133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:122128800-122132000	Weak transcription	Osteobl	bone
5	chr8:122129200-122130400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:122129400-122131400	Weak transcription	NHDF-Ad	bronchial
7	chr8:122130000-122131200	Weak transcription	Fetal Stomach	stomach
8	chr8:122130200-122131200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:122130200-122131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:122130200-122131200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:122130200-122131800	Weak transcription	Adipose Nuclei	Adipose

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