Variant report

Variant	rs58247451
Chromosome Location	chr7:118816791-118816792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12333381	0.85[EUR][1000 genomes]
rs17132650	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17142040	0.81[EUR][1000 genomes]
rs28409111	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56015007	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58579703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58825456	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58954362	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60486580	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73478887	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73478890	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73478892	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73478899	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73478900	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73480807	0.84[EUR][1000 genomes]
rs73480810	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73718376	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73718386	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73718698	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73718780	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73718786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73718922	0.81[AMR][1000 genomes]
rs7811688	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889098	chr7:118590050-118896639	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1825159	chr7:118640865-118842361	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv889099	chr7:118709754-118868426	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv889100	chr7:118744450-119247571	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889101	chr7:118778802-119177670	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1793187	chr7:118794683-118834412	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv1830301	chr7:118794683-118834412	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1023789	chr7:118803459-118854579	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv5925	chr7:118804702-118841585	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118814400-118818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:118814600-118818000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:118816000-118817800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:118816000-118818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:118816200-118818000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:118816200-118818200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:118816200-118818200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:118816200-118818200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:118816200-118818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:118816200-118829600	Weak transcription	Right Atrium	heart

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