Variant report

Variant	rs847248
Chromosome Location	chr14:72713794-72713795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72711994..72714695-chr14:72721324..72722948,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1002105	0.80[EUR][1000 genomes]
rs12881198	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12891167	0.84[ASN][1000 genomes]
rs12897241	0.82[ASN][1000 genomes]
rs1520327	0.91[ASN][1000 genomes]
rs17109573	0.84[ASN][1000 genomes]
rs17109589	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1981604	0.80[EUR][1000 genomes]
rs2079501	0.80[EUR][1000 genomes]
rs2238219	0.84[ASN][1000 genomes]
rs2238220	0.84[ASN][1000 genomes]
rs2238223	0.83[ASN][1000 genomes]
rs2238224	0.83[ASN][1000 genomes]
rs2239260	0.86[AFR][1000 genomes]
rs2239262	0.82[ASN][1000 genomes]
rs2283399	0.82[ASN][1000 genomes]
rs2283400	0.82[ASN][1000 genomes]
rs34122902	0.93[ASN][1000 genomes]
rs35413081	0.83[ASN][1000 genomes]
rs36162266	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4903000	0.83[ASN][1000 genomes]
rs4903005	0.82[ASN][1000 genomes]
rs56263585	0.82[ASN][1000 genomes]
rs66823874	0.85[ASN][1000 genomes]
rs699359	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7156404	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs722561	0.87[ASN][1000 genomes]
rs72721816	0.83[ASN][1000 genomes]
rs847246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs847247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847249	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs847251	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847261	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv977418	chr14:72711411-72714736	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
2	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:72711400-72713800	Weak transcription	Fetal Heart	heart
4	chr14:72711400-72714600	Weak transcription	Fetal Stomach	stomach
5	chr14:72711600-72719600	Weak transcription	Left Ventricle	heart
6	chr14:72712000-72722200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:72712800-72722600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:72713200-72715400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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