Variant report

Variant	rs8020953
Chromosome Location	chr14:64751598-64751599
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	ZNF384	chr14:64751365-64751697	K562	blood:	n/a	n/a
2	CEBPB	chr14:64751533-64751702	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64746737..64749399-chr14:64750008..64752875,2	K562	blood:

Variant related genes	Relation type
ESR2	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12432029	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434245	0.81[EUR][1000 genomes]
rs12435284	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952586	0.83[EUR][1000 genomes]
rs2295641	0.85[EUR][1000 genomes]
rs28402888	0.83[EUR][1000 genomes]
rs28435160	0.83[EUR][1000 genomes]
rs28440970	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533821	0.83[EUR][1000 genomes]
rs28659912	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947517	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56386725	0.84[EUR][1000 genomes]
rs66969518	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67160339	0.83[EUR][1000 genomes]
rs67991812	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145919	0.81[EUR][1000 genomes]
rs7159462	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720372	0.82[EUR][1000 genomes]
rs72720375	0.82[EUR][1000 genomes]
rs72720376	0.82[EUR][1000 genomes]
rs72720380	0.82[EUR][1000 genomes]
rs72720382	0.81[EUR][1000 genomes]
rs72722305	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722317	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722320	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72722324	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722326	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004284	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004907	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013331	0.90[EUR][1000 genomes]
rs8019025	0.83[EUR][1000 genomes]
rs8021944	0.82[EUR][1000 genomes]
rs8022694	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1307	chr14:64742037-64787315	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64727600-64757600	Weak transcription	Ovary	ovary
2	chr14:64735400-64757200	Weak transcription	Thymus	Thymus
3	chr14:64749600-64756400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:64750400-64752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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