Variant report

Variant	rs56193718
Chromosome Location	chr7:79417523-79417524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11972803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11973409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977110	0.86[AFR][1000 genomes]
rs11979651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11980955	0.89[AFR][1000 genomes]
rs11981168	0.89[AFR][1000 genomes]
rs12112402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12113366	0.89[AFR][1000 genomes]
rs17152857	0.86[AFR][1000 genomes]
rs17152858	0.86[AFR][1000 genomes]
rs17152859	0.86[AFR][1000 genomes]
rs17152864	0.86[AFR][1000 genomes]
rs17152873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152877	0.89[AFR][1000 genomes]
rs17152935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1851752	0.86[AFR][1000 genomes]
rs1922732	0.89[AFR][1000 genomes]
rs1922733	0.89[AFR][1000 genomes]
rs2023897	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2023898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107410	0.89[AFR][1000 genomes]
rs55772364	0.86[AFR][1000 genomes]
rs55894416	0.85[AFR][1000 genomes]
rs56307600	0.85[AFR][1000 genomes]
rs56320258	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56351881	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56855945	0.89[AFR][1000 genomes]
rs57226669	0.86[AFR][1000 genomes]
rs57325773	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57942274	0.89[AFR][1000 genomes]
rs58192392	0.86[AFR][1000 genomes]
rs58333083	0.89[AFR][1000 genomes]
rs59182614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59329952	0.86[AFR][1000 genomes]
rs59636427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60300830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60390345	0.86[AFR][1000 genomes]
rs61008265	0.81[AFR][1000 genomes]
rs6949571	0.89[AFR][1000 genomes]
rs6976935	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73368650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73368654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73368661	0.89[AFR][1000 genomes]
rs73368662	0.89[AFR][1000 genomes]
rs73368680	0.89[AFR][1000 genomes]
rs73368686	0.89[AFR][1000 genomes]
rs73370594	0.85[AFR][1000 genomes]
rs73372520	0.82[AFR][1000 genomes]
rs73381225	0.86[AFR][1000 genomes]
rs73381226	0.86[AFR][1000 genomes]
rs73383025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383061	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73705067	0.98[AFR][1000 genomes]
rs73709235	0.81[AFR][1000 genomes]
rs7779271	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7789978	0.86[AFR][1000 genomes]
rs7806037	0.84[AFR][1000 genomes]
rs7806665	0.82[AFR][1000 genomes]
rs7809579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs980782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758121	chr7:79261464-79427646	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759540	chr7:79261464-79427646	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv607670	chr7:79310586-79434743	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2829876	chr7:79355196-79483480	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888521	chr7:79371206-79483480	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888522	chr7:79402551-79619012	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79409000-79419400	Weak transcription	NHLF	lung
2	chr7:79411600-79420200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:79417000-79417600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:79417000-79419400	Weak transcription	Fetal Lung	lung
5	chr7:79417200-79419000	Weak transcription	Fetal Brain Male	brain
6	chr7:79417200-79420600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:79417400-79417600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:79417400-79418600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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