Variant report

Variant	rs2412480
Chromosome Location	chr15:40438837-40438838
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	chr15:40437357..40438931-chr15:40442265..40443877,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1031963	0.94[ASN][1000 genomes]
rs1031964	0.94[ASN][1000 genomes]
rs10518681	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518682	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070253	0.90[ASN][1000 genomes]
rs11630664	0.91[ASN][1000 genomes]
rs11631616	0.94[ASN][1000 genomes]
rs11632939	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11634034	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11634065	0.86[ASN][1000 genomes]
rs11636204	0.93[ASN][1000 genomes]
rs11636293	0.91[ASN][1000 genomes]
rs11636402	0.95[EUR][1000 genomes]
rs11637268	0.89[EUR][1000 genomes]
rs11637555	0.86[ASN][1000 genomes]
rs11638942	0.94[EUR][1000 genomes]
rs11854027	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11854103	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11854965	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438986	0.98[EUR][1000 genomes]
rs12898627	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12898804	0.88[ASN][1000 genomes]
rs12899102	0.91[ASN][1000 genomes]
rs12899779	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12901947	0.94[ASN][1000 genomes]
rs12902191	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902458	0.91[ASN][1000 genomes]
rs12903940	0.91[ASN][1000 genomes]
rs12905742	0.94[ASN][1000 genomes]
rs12908093	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12909888	0.88[ASN][1000 genomes]
rs12910199	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12911157	0.95[EUR][1000 genomes]
rs12912902	0.91[ASN][1000 genomes]
rs12912982	0.88[ASN][1000 genomes]
rs12913620	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913741	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913803	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913994	0.90[ASN][1000 genomes]
rs12915249	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12916805	0.90[ASN][1000 genomes]
rs12916901	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471583	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1565863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565866	0.94[ASN][1000 genomes]
rs16970409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1801376	0.95[EUR][1000 genomes]
rs1845477	0.91[ASN][1000 genomes]
rs2002425	0.94[ASN][1000 genomes]
rs2128013	0.87[ASN][1000 genomes]
rs2172742	0.88[ASN][1000 genomes]
rs2277559	0.96[EUR][1000 genomes]
rs2277560	0.91[ASN][1000 genomes]
rs2290551	0.88[ASN][1000 genomes]
rs2305653	0.91[ASN][1000 genomes]
rs2412482	0.93[EUR][1000 genomes]
rs2898988	0.89[ASN][1000 genomes]
rs3214012	0.95[EUR][1000 genomes]
rs34191615	0.91[ASN][1000 genomes]
rs34358001	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34823877	0.91[ASN][1000 genomes]
rs3759839	0.94[ASN][1000 genomes]
rs3759842	0.94[ASN][1000 genomes]
rs4244573	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4244574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923856	0.94[ASN][1000 genomes]
rs4923857	0.95[EUR][1000 genomes]
rs4924419	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924420	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4924422	0.94[ASN][1000 genomes]
rs4924424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924425	0.94[ASN][1000 genomes]
rs4924427	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924428	0.94[ASN][1000 genomes]
rs4924429	0.93[ASN][1000 genomes]
rs4924430	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492813	0.96[EUR][1000 genomes]
rs500693	0.97[EUR][1000 genomes]
rs521896	0.98[EUR][1000 genomes]
rs597752	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62020024	0.94[ASN][1000 genomes]
rs6492932	0.93[EUR][1000 genomes]
rs6492935	0.94[EUR][1000 genomes]
rs7162894	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7163546	0.88[ASN][1000 genomes]
rs7164047	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164783	0.88[ASN][1000 genomes]
rs7169842	0.88[ASN][1000 genomes]
rs7170412	0.86[ASN][1000 genomes]
rs7177759	0.95[EUR][1000 genomes]
rs7180335	0.87[ASN][1000 genomes]
rs7495483	0.88[ASN][1000 genomes]
rs797420	0.96[EUR][1000 genomes]
rs8023395	0.85[ASN][1000 genomes]
rs8026738	0.91[ASN][1000 genomes]
rs8037190	0.95[EUR][1000 genomes]
rs8043080	0.94[ASN][1000 genomes]
rs811746	0.95[EUR][1000 genomes]
rs876821	0.94[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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3423229	chr15:40417126-40447686	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3500491	chr15:40417175-40446353	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3500492	chr15:40417175-40446353	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40428600-40442200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:40437400-40442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40437800-40439200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:40437800-40439200	Enhancers	HMEC	breast
5	chr15:40438000-40439200	Enhancers	NHEK	skin
6	chr15:40438000-40439400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:40438000-40439400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:40438400-40442200	Weak transcription	Hela-S3	cervix
9	chr15:40438400-40446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:40438600-40442000	Weak transcription	HSMMtube	muscle
11	chr15:40438600-40442200	Weak transcription	NH-A	brain
12	chr15:40438800-40442200	Weak transcription	A549	lung
13	chr15:40438800-40442200	Weak transcription	HSMM	muscle
14	chr15:40438800-40446800	Weak transcription	Placenta Amnion	Placenta Amnion

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