Variant report

Variant	rs847251
Chromosome Location	chr14:72713228-72713229
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: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1002105	1.00[GIH][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs12100639	0.85[YRI][hapmap]
rs12147219	0.85[CHB][hapmap]
rs12147220	0.85[CHB][hapmap]
rs12881198	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12891167	0.83[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs12897241	0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs13329057	0.85[YRI][hapmap]
rs1520327	0.95[ASN][1000 genomes]
rs17109194	0.85[CHB][hapmap]
rs17109573	0.83[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs17109589	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1879288	0.83[JPT][hapmap]
rs1981604	0.80[EUR][1000 genomes]
rs2079501	0.94[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2238197	1.00[GIH][hapmap];0.91[TSI][hapmap]
rs2238209	0.83[JPT][hapmap]
rs2238210	0.83[JPT][hapmap]
rs2238219	0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs2238220	0.83[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2238223	0.86[ASN][1000 genomes]
rs2238224	0.86[ASN][1000 genomes]
rs2238228	0.85[CHB][hapmap]
rs2238233	0.85[CHB][hapmap]
rs2238234	0.85[CHB][hapmap]
rs2238235	0.85[CHB][hapmap]
rs2238236	0.84[CHB][hapmap]
rs2238237	0.85[CHB][hapmap]
rs2238239	0.85[CHB][hapmap]
rs2239260	0.86[ASW][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2239262	0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2283393	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2283399	0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2283400	0.86[ASN][1000 genomes]
rs34122902	0.96[ASN][1000 genomes]
rs35413081	0.86[ASN][1000 genomes]
rs36162266	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4899429	0.83[JPT][hapmap]
rs4903000	0.86[ASN][1000 genomes]
rs4903005	0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs56263585	0.86[ASN][1000 genomes]
rs66823874	0.89[ASN][1000 genomes]
rs699359	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144604	0.85[YRI][hapmap]
rs7156404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs722561	0.83[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs72721816	0.86[ASN][1000 genomes]
rs847233	0.85[YRI][hapmap]
rs847246	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs847248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847249	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs847256	0.92[CEU][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs847257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs847260	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847261	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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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