Variant report

Variant	rs73700420
Chromosome Location	chr8:104514571-104514572
allele	C/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	REST	chr8:104513364-104514736	MCF-7	breast:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106
2	REST	chr8:104512423-104514580	H1-neurons	neurons:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106 chr8:104512792-104512805 chr8:104512440-104512453 chr8:104512716-104512729 chr8:104513032-104513045 chr8:104512447-104512457
3	REST	chr8:104513476-104514584	PANC-1	pancreas:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106
4	REST	chr8:104512607-104514702	HL-60	blood:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106 chr8:104512792-104512805 chr8:104512716-104512729 chr8:104513032-104513045
5	REST	chr8:104512740-104514670	ECC-1	luminal epithelium:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106 chr8:104512792-104512805 chr8:104513032-104513045
6	REST	chr8:104513603-104514851	PANC-1	pancreas:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106
7	MXI1	chr8:104510187-104514952	SK-N-SH	brain:	n/a	n/a
8	REST	chr8:104513364-104514695	A549	lung:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106
9	REST	chr8:104512414-104514743	ECC-1	luminal epithelium:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106 chr8:104512792-104512805 chr8:104512440-104512453 chr8:104512716-104512729 chr8:104513032-104513045 chr8:104512447-104512457
10	REST	chr8:104513545-104514639	HCT-116	colon:	n/a	chr8:104514141-104514150 chr8:104514130-104514144 chr8:104514132-104514142 chr8:104514096-104514106

No.	Distal block	Cell Line	Cell type
1	chr8:104510408..104513975-chr8:104514318..104516305,3	MCF-7	breast:
2	chr20:52209323..52210926-chr8:104513157..104515748,2	MCF-7	breast:
3	chr8:104514386..104518041-chr8:104521467..104524812,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253477	TF binding region
ENSG00000171940	Chromatin interaction
ENSG00000253477	Chromatin interaction
ENSG00000176406	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12114100	0.98[AFR][1000 genomes]
rs55967316	0.87[AFR][1000 genomes]
rs56773931	0.84[AFR][1000 genomes]
rs57067672	0.93[AFR][1000 genomes]
rs58222629	0.94[AFR][1000 genomes]
rs58774639	0.89[AFR][1000 genomes]
rs60299412	0.84[AFR][1000 genomes]
rs6468877	0.93[AFR][1000 genomes]
rs6993163	0.84[AFR][1000 genomes]
rs6997310	0.94[AFR][1000 genomes]
rs7005300	0.81[AFR][1000 genomes]
rs7006816	0.82[AFR][1000 genomes]
rs73696666	0.86[AFR][1000 genomes]
rs73696667	0.85[AFR][1000 genomes]
rs73700412	0.89[AFR][1000 genomes]
rs73700421	0.81[AFR][1000 genomes]
rs73702146	0.83[AFR][1000 genomes]
rs7824892	0.89[AFR][1000 genomes]
rs7825848	0.92[AFR][1000 genomes]
rs7826206	0.82[AFR][1000 genomes]
rs7830015	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104510400-104514600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:104510400-104514800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:104510400-104515000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:104510600-104514600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:104510600-104514600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:104510600-104514800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:104510800-104515000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:104511000-104515200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:104511800-104515600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:104513600-104514600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:104513800-104514600	Active TSS	Brain Germinal Matrix	brain
12	chr8:104514200-104514600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:104514200-104514800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:104514200-104515200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:104514200-104519000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:104514200-104524000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:104514400-104514600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:104514400-104514600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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