Variant report

Variant	rs12462507
Chromosome Location	chr19:44310391-44310392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44309296..44311046-chr19:44312187..44314138,2	K562	blood:
2	chr19:44293403..44294999-chr19:44310086..44311821,2	K562	blood:
3	chr19:44256990..44258617-chr19:44309016..44311766,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1036246	0.93[ASN][1000 genomes]
rs10405318	0.94[ASN][1000 genomes]
rs10408461	0.94[ASN][1000 genomes]
rs10412955	0.93[ASN][1000 genomes]
rs10415344	0.93[ASN][1000 genomes]
rs10416116	0.94[ASN][1000 genomes]
rs10500286	0.90[ASN][1000 genomes]
rs10500287	0.83[ASN][1000 genomes]
rs11878787	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879541	0.94[ASN][1000 genomes]
rs11880651	0.94[ASN][1000 genomes]
rs12608578	0.94[ASN][1000 genomes]
rs13344589	0.92[ASN][1000 genomes]
rs1549953	0.93[ASN][1000 genomes]
rs1549954	0.93[ASN][1000 genomes]
rs1549955	0.93[ASN][1000 genomes]
rs1549956	0.93[ASN][1000 genomes]
rs1549957	0.93[ASN][1000 genomes]
rs1549959	0.93[ASN][1000 genomes]
rs1565057	0.83[ASN][1000 genomes]
rs17712224	0.91[ASN][1000 genomes]
rs1909	0.93[ASN][1000 genomes]
rs1964381	0.90[ASN][1000 genomes]
rs1994414	0.93[ASN][1000 genomes]
rs1994415	0.93[ASN][1000 genomes]
rs1994416	0.93[ASN][1000 genomes]
rs2016345	0.92[ASN][1000 genomes]
rs2099356	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2163855	0.94[ASN][1000 genomes]
rs2195981	0.93[ASN][1000 genomes]
rs2217669	0.93[ASN][1000 genomes]
rs2356401	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356403	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356432	0.94[ASN][1000 genomes]
rs2356433	0.94[ASN][1000 genomes]
rs2356434	0.93[ASN][1000 genomes]
rs2356438	0.93[ASN][1000 genomes]
rs2356439	0.93[ASN][1000 genomes]
rs239948	0.93[ASN][1000 genomes]
rs239949	0.93[ASN][1000 genomes]
rs349032	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4511643	0.93[ASN][1000 genomes]
rs57096959	0.94[ASN][1000 genomes]
rs57133938	0.93[ASN][1000 genomes]
rs59503823	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60036744	0.93[ASN][1000 genomes]
rs60085895	0.92[ASN][1000 genomes]
rs62114569	0.93[ASN][1000 genomes]
rs62118368	0.93[ASN][1000 genomes]
rs62118369	0.94[ASN][1000 genomes]
rs62118371	0.93[ASN][1000 genomes]
rs62118372	0.93[ASN][1000 genomes]
rs6509120	0.93[ASN][1000 genomes]
rs7247308	0.94[ASN][1000 genomes]
rs7247863	0.93[ASN][1000 genomes]
rs7248807	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249057	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253002	0.94[ASN][1000 genomes]
rs7253384	0.94[ASN][1000 genomes]
rs7253606	0.94[ASN][1000 genomes]
rs7254659	0.93[ASN][1000 genomes]
rs7259647	0.91[ASN][1000 genomes]
rs73052639	0.97[ASN][1000 genomes]
rs73052665	0.93[ASN][1000 genomes]
rs7508701	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8099861	0.93[ASN][1000 genomes]
rs8106802	0.93[ASN][1000 genomes]
rs8112065	0.93[ASN][1000 genomes]
rs8113286	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44309200-44310400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:44309200-44311000	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:44310200-44311400	Enhancers	NHEK	skin
4	chr19:44310200-44314200	Enhancers	HMEC	breast

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