Variant report

Variant	rs2079501
Chromosome Location	chr14:72745726-72745727
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	chr14:72740515..72742453-chr14:72744658..72746675,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1002105	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.92[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12881198	0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs12883470	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12891167	1.00[ASW][hapmap];0.83[JPT][hapmap];0.85[LWK][hapmap]
rs12895250	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12897241	0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs1402065	1.00[ASW][hapmap];0.86[CHB][hapmap]
rs1520327	0.81[AMR][1000 genomes]
rs1520329	1.00[ASW][hapmap];0.84[CHB][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1589301	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17109573	0.83[JPT][hapmap]
rs17109589	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs17110829	0.86[CHB][hapmap]
rs1879288	0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1981604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238197	0.83[CEU][hapmap];0.94[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs2238198	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs2238200	0.86[CHB][hapmap];0.84[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2238203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2238209	0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238210	1.00[ASW][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238219	0.83[JPT][hapmap]
rs2238220	0.83[JPT][hapmap]
rs2238237	1.00[ASW][hapmap]
rs2239226	1.00[ASW][hapmap]
rs2239236	1.00[ASW][hapmap]
rs2239252	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs2239253	1.00[ASW][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2239254	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239256	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2239260	0.83[JPT][hapmap]
rs2239262	0.81[CEU][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs2283386	1.00[ASW][hapmap]
rs2283387	1.00[ASW][hapmap]
rs2283393	0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2283394	0.86[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs2283395	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2283399	0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs2283400	0.81[AMR][1000 genomes]
rs34122902	0.81[AMR][1000 genomes]
rs34373542	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35133217	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs35413081	0.81[AMR][1000 genomes]
rs4324071	0.89[ASN][1000 genomes]
rs4899429	1.00[ASW][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899431	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4899432	0.86[CHB][hapmap]
rs4903005	0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs4903008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4903011	0.86[CHB][hapmap]
rs55954287	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56263585	0.81[AMR][1000 genomes]
rs66823874	0.81[AMR][1000 genomes]
rs67838629	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs699359	0.80[EUR][1000 genomes]
rs7156265	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722561	0.83[JPT][hapmap]
rs8013850	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8015237	0.86[CHB][hapmap]
rs8015476	0.84[CHB][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847246	0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs847247	0.80[EUR][1000 genomes]
rs847248	0.80[EUR][1000 genomes]
rs847249	0.80[EUR][1000 genomes]
rs847251	0.94[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs847256	0.80[EUR][1000 genomes]
rs847257	0.80[EUR][1000 genomes]
rs847260	0.94[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs847261	0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs847341	0.82[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	nsv983983	chr14:72741726-72748921	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72723400-72747600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72732600-72751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72745000-72747800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:72745400-72748400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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