Variant report

Variant	rs2415550
Chromosome Location	chr14:39904607-39904608
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	CEBPB	chr14:39904467-39904837	HepG2	liver:	n/a	chr14:39904648-39904659 chr14:39904649-39904660 chr14:39904648-39904661
2	CEBPB	chr14:39904521-39904776	Hela-S3	cervix:	n/a	chr14:39904648-39904659 chr14:39904649-39904660 chr14:39904648-39904661
3	WRNIP1	chr14:39904582-39904682	GM12878	blood:	n/a	n/a
4	CEBPB	chr14:39904454-39904823	MCF-7	breast:	n/a	chr14:39904648-39904659 chr14:39904649-39904660 chr14:39904648-39904661
5	CEBPB	chr14:39904494-39904825	A549	lung:	n/a	chr14:39904648-39904659 chr14:39904649-39904660 chr14:39904648-39904661
6	CEBPB	chr14:39904510-39904840	K562	blood:	n/a	chr14:39904648-39904659 chr14:39904649-39904660 chr14:39904648-39904661
7	CEBPB	chr14:39904475-39904828	IMR90	lung:	n/a	chr14:39904648-39904659 chr14:39904649-39904660 chr14:39904648-39904661

No.	Distal block	Cell Line	Cell type
1	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
2	chr14:39904079..39906204-chr14:39915198..39917525,2	MCF-7	breast:
3	chr14:39903003..39906043-chr14:39907787..39910140,3	MCF-7	breast:
4	chr14:39900470..39903127-chr14:39904524..39908073,4	MCF-7	breast:
5	chr14:39900489..39902146-chr14:39904557..39906458,2	K562	blood:

Variant related genes	Relation type
FBXO33	TF binding region
ENSG00000182400	Chromatin interaction
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11157067	0.89[AFR][1000 genomes]
rs11847057	0.96[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12232110	0.96[ASN][1000 genomes]
rs12587625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588110	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12588175	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12589427	0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12590172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12882250	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12883652	0.84[ASN][1000 genomes]
rs12884747	0.98[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12886769	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12894855	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12896502	0.82[ASN][1000 genomes]
rs12897960	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17109300	0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17109328	0.93[AFR][1000 genomes]
rs1950329	0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1950334	0.96[AFR][1000 genomes]
rs1950336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950338	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1955718	0.98[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2038278	0.84[ASN][1000 genomes]
rs2057137	0.83[ASN][1000 genomes]
rs2057138	0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2207291	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274395	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415549	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899888	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2899889	0.89[ASN][1000 genomes]
rs34432449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34589600	0.81[ASN][1000 genomes]
rs34649642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34687394	0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34894621	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35115885	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35459433	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35553183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35643160	0.98[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35693868	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35876588	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35923045	0.93[AFR][1000 genomes]
rs36010374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899245	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899277	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899278	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899287	0.82[ASN][1000 genomes]
rs4899291	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4902569	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4902570	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4902598	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902599	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902622	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902636	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902637	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902665	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902676	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902692	0.98[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56046902	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56375627	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67439322	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67963654	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs71407788	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71407789	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140983	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145821	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7148377	0.84[ASN][1000 genomes]
rs7152341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7152935	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153413	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158709	0.98[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7161403	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718364	0.84[ASN][1000 genomes]
rs72675487	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003621	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8006123	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8006321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020250	0.93[AFR][1000 genomes]
rs910370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910371	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr14:39902400-39910200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:39902400-39911400	Weak transcription	Gastric	stomach
3	chr14:39902800-39910200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:39903000-39910000	Weak transcription	Lung	lung
5	chr14:39903000-39910800	Weak transcription	Fetal Brain Male	brain
6	chr14:39903000-39911200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:39903000-39912600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:39903000-39916400	Weak transcription	Fetal Heart	heart
9	chr14:39903200-39910800	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:39903200-39912000	Weak transcription	Aorta	Aorta

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