Variant report

Variant	rs73703993
Chromosome Location	chr8:125222721-125222722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125214674..125216919-chr8:125220846..125223864,3	MCF-7	breast:
2	chr8:125222612..125225526-chr8:125239750..125242357,2	MCF-7	breast:
3	chr8:125212532..125214364-chr8:125222208..125224705,2	MCF-7	breast:
4	chr8:125211750..125214142-chr8:125220839..125224672,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11985624	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986399	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988179	1.00[EUR][1000 genomes]
rs11993616	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16899392	1.00[EUR][1000 genomes]
rs16899395	1.00[EUR][1000 genomes]
rs16899398	1.00[EUR][1000 genomes]
rs16899412	1.00[EUR][1000 genomes]
rs16899415	1.00[EUR][1000 genomes]
rs55665685	1.00[EUR][1000 genomes]
rs55983716	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56187466	1.00[EUR][1000 genomes]
rs56245137	1.00[EUR][1000 genomes]
rs56293000	1.00[EUR][1000 genomes]
rs56348823	1.00[EUR][1000 genomes]
rs59692764	1.00[EUR][1000 genomes]
rs60849706	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61668924	1.00[EUR][1000 genomes]
rs6470232	1.00[EUR][1000 genomes]
rs6470234	1.00[EUR][1000 genomes]
rs6980940	1.00[EUR][1000 genomes]
rs6991501	1.00[EUR][1000 genomes]
rs6999329	1.00[EUR][1000 genomes]
rs7003668	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73328371	1.00[EUR][1000 genomes]
rs73703979	1.00[EUR][1000 genomes]
rs73703980	1.00[EUR][1000 genomes]
rs73703982	1.00[EUR][1000 genomes]
rs73703992	1.00[EUR][1000 genomes]
rs73703995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703996	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703997	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703998	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73703999	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704000	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704001	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816741	0.83[AMR][1000 genomes];1.00[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	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125216400-125240200	Weak transcription	Left Ventricle	heart
2	chr8:125220600-125224600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:125220800-125222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:125220800-125223200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:125221000-125225000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:125221000-125225000	Weak transcription	Osteobl	bone
7	chr8:125221000-125225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125221400-125223000	Enhancers	HUVEC	blood vessel
9	chr8:125221800-125223000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:125222000-125223200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:125222400-125223600	Weak transcription	Fetal Lung	lung
12	chr8:125222600-125225000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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