Variant report

Variant	rs1990029
Chromosome Location	chr12:48407987-48407988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48401338..48404101-chr12:48405666..48408506,2	MCF-7	breast:
2	chr12:48407751..48410923-chr12:48414618..48417182,4	MCF-7	breast:
3	chr12:48407869..48410123-chr12:48411477..48413880,2	K562	blood:
4	chr12:48406038..48410831-chr12:48411860..48418424,9	MCF-7	breast:
5	chr12:48389851..48391861-chr12:48407332..48409151,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1018973	0.92[EUR][1000 genomes]
rs1034762	0.85[CEU][hapmap]
rs10783226	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10783227	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11612578	0.86[CEU][hapmap];0.96[EUR][1000 genomes]
rs11612970	0.84[EUR][1000 genomes]
rs11613485	0.85[EUR][1000 genomes]
rs12580764	0.87[EUR][1000 genomes]
rs1476608	0.81[EUR][1000 genomes]
rs1635526	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1635528	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1635529	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1635550	0.85[CEU][hapmap]
rs17122611	0.87[EUR][1000 genomes]
rs17122612	0.87[EUR][1000 genomes]
rs17122613	0.85[EUR][1000 genomes]
rs17122651	0.81[EUR][1000 genomes]
rs1793931	1.00[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1793933	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1793955	0.85[EUR][1000 genomes]
rs1859441	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs1859444	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1968071	0.81[EUR][1000 genomes]
rs2286022	0.89[EUR][1000 genomes]
rs3742074	0.87[EUR][1000 genomes]
rs3803183	0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3803184	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3825404	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4293182	0.85[EUR][1000 genomes]
rs4589362	0.81[EUR][1000 genomes]
rs4760611	0.91[EUR][1000 genomes]
rs4760614	0.92[EUR][1000 genomes]
rs4760615	0.94[EUR][1000 genomes]
rs4760618	0.91[EUR][1000 genomes]
rs4760677	0.92[EUR][1000 genomes]
rs57054831	0.81[EUR][1000 genomes]
rs57380031	0.85[EUR][1000 genomes]
rs58046797	0.81[EUR][1000 genomes]
rs59766465	0.86[EUR][1000 genomes]
rs60567660	0.81[EUR][1000 genomes]
rs60629297	0.86[EUR][1000 genomes]
rs60681522	0.87[EUR][1000 genomes]
rs6580647	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580649	1.00[CEU][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580651	0.92[EUR][1000 genomes]
rs7132668	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7133249	0.87[EUR][1000 genomes]
rs72644841	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72644842	0.92[EUR][1000 genomes]
rs72644843	0.87[EUR][1000 genomes]
rs72644844	0.87[EUR][1000 genomes]
rs7296913	0.81[EUR][1000 genomes]
rs7305954	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7310579	0.94[EUR][1000 genomes]
rs7312326	0.81[EUR][1000 genomes]
rs7957764	0.94[EUR][1000 genomes]
rs7959755	0.92[EUR][1000 genomes]
rs7963934	0.81[EUR][1000 genomes]
rs7967762	0.91[EUR][1000 genomes]
rs7971668	0.87[EUR][1000 genomes]
rs917055	0.93[CEU][hapmap]
rs9651993	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9805048	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1990029	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48403000-48410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48406800-48408800	Enhancers	Fetal Intestine Large	intestine
4	chr12:48407600-48411400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:48407800-48410800	Weak transcription	Fetal Intestine Small	intestine

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