Variant report

Variant	rs12440392
Chromosome Location	chr15:73259681-73259682
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73258951..73261600-chr15:73262517..73265524,3	MCF-7	breast:
2	chr15:73258007..73260619-chr15:73270009..73272452,2	K562	blood:
3	chr15:73253962..73256097-chr15:73259190..73261337,2	MCF-7	breast:
4	chr15:73258007..73261007-chr15:73268843..73272452,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1080331	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1080332	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072398	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072401	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11632783	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11639220	0.96[ASN][1000 genomes]
rs12438940	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442084	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12443302	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12592939	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12594272	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12901593	0.95[ASN][1000 genomes]
rs1375496	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1449267	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1449270	0.87[ASN][1000 genomes]
rs1466111	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1823338	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1839271	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1900901	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1979106	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2053857	0.80[ASN][1000 genomes]
rs2122217	0.90[ASN][1000 genomes]
rs2415209	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2415212	0.81[ASN][1000 genomes]
rs2415213	0.81[ASN][1000 genomes]
rs28424084	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28451690	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28513521	0.95[ASN][1000 genomes]
rs28615518	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28647826	0.96[ASN][1000 genomes]
rs28666516	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28686814	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34173815	0.80[ASN][1000 genomes]
rs4076146	0.96[ASN][1000 genomes]
rs4238456	0.84[ASN][1000 genomes]
rs4238457	0.84[ASN][1000 genomes]
rs4238458	0.84[ASN][1000 genomes]
rs4260029	0.84[ASN][1000 genomes]
rs4260030	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4286085	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4297657	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4328412	0.84[ASN][1000 genomes]
rs4360901	0.95[ASN][1000 genomes]
rs4366688	0.95[ASN][1000 genomes]
rs4374145	0.95[ASN][1000 genomes]
rs4383117	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4401026	0.85[ASN][1000 genomes]
rs4430712	0.80[ASN][1000 genomes]
rs4468585	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4511500	0.86[ASN][1000 genomes]
rs4522396	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4531709	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4563021	0.84[ASN][1000 genomes]
rs4572358	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4575500	0.84[ASN][1000 genomes]
rs4597288	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4776621	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4777569	0.80[ASN][1000 genomes]
rs4777577	0.85[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4777578	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55768020	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60053960	0.90[ASN][1000 genomes]
rs60557800	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62015256	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6495033	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6495035	0.86[ASN][1000 genomes]
rs6495036	0.87[ASN][1000 genomes]
rs6495037	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495038	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495039	0.95[ASN][1000 genomes]
rs6495040	0.95[ASN][1000 genomes]
rs6495042	0.84[ASN][1000 genomes]
rs7164304	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7164592	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7165104	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165325	0.95[ASN][1000 genomes]
rs7165504	0.95[ASN][1000 genomes]
rs7165834	0.86[ASN][1000 genomes]
rs7166470	0.95[ASN][1000 genomes]
rs7178831	0.96[ASN][1000 genomes]
rs7180332	0.96[ASN][1000 genomes]
rs7183175	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7496513	0.83[ASN][1000 genomes]
rs8025463	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8025665	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8031589	0.84[ASN][1000 genomes]
rs8033793	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033860	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033954	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8034120	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036013	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921260	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921261	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521475	chr15:73250485-73263405	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73253400-73261400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:73254800-73260000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:73254800-73263200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:73255000-73259800	Weak transcription	Colonic Mucosa	Colon
5	chr15:73256800-73260000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:73258000-73264400	Enhancers	Fetal Brain Male	brain
7	chr15:73258200-73259800	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:73258400-73259800	Weak transcription	Fetal Brain Female	brain
9	chr15:73258400-73259800	Weak transcription	Fetal Intestine Small	intestine
10	chr15:73258600-73259800	Weak transcription	Fetal Intestine Large	intestine
11	chr15:73258600-73260000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:73259200-73263400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:73259400-73260000	Weak transcription	Fetal Heart	heart

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