Variant report

Variant	rs848115
Chromosome Location	chr14:37256314-37256315
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	KAP1	chr14:37256001-37256368	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37249594..37251449-chr14:37254908..37257769,2	K562	blood:
2	chr14:37252024..37253685-chr14:37255596..37257219,2	K562	blood:

Variant related genes	Relation type
ENSG00000258690	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10134198	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10134532	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10134535	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1325534	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1325535	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1325537	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1739611	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1739613	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1749926	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1749927	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1749928	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1749929	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1749944	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1749945	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1853812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764953	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2764954	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2764958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774037	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2774038	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2774039	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28405559	0.81[EUR][1000 genomes]
rs712324	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs712328	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73264788	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs848090	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848095	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848098	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848099	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848100	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848101	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848102	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848103	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848104	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848105	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848108	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848109	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848110	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs848114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848117	1.00[AFR][1000 genomes]
rs848118	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848119	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs848115	RP11-81F13.2	cis	Esophagus Mucosa	GTEx
rs848115	RP11-81F13.1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37255000-37257600	Weak transcription	Esophagus	oesophagus

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