Variant report

Variant	rs1234032
Chromosome Location	chr12:42354629-42354630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1009723	0.96[EUR][1000 genomes]
rs1016659	0.96[EUR][1000 genomes]
rs1024700	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10431604	0.89[EUR][1000 genomes]
rs1064469	0.87[MEX][hapmap]
rs10748323	0.89[EUR][1000 genomes]
rs10785320	0.92[EUR][1000 genomes]
rs1226303	0.90[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs1233988	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233992	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1233994	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233996	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234029	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1234033	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1234034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234035	0.92[EUR][1000 genomes]
rs1234037	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234038	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234052	0.81[EUR][1000 genomes]
rs1234054	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12826710	0.83[ASN][1000 genomes]
rs1463613	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs1628871	0.88[CEU][hapmap];0.92[JPT][hapmap]
rs1732351	0.90[CEU][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap]
rs1732352	0.90[CEU][hapmap];0.94[JPT][hapmap]
rs1882139	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1994284	0.81[ASN][1000 genomes]
rs2012636	0.92[EUR][1000 genomes]
rs2091678	0.82[EUR][1000 genomes]
rs3990966	0.84[MEX][hapmap]
rs6582378	0.90[CEU][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs6582383	0.84[MEX][hapmap]
rs712106	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs7135851	0.84[MEX][hapmap]
rs7136038	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7297464	0.84[MEX][hapmap]
rs7303028	0.90[CEU][hapmap];0.85[GIH][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap]
rs7305763	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7957081	0.96[EUR][1000 genomes]
rs7958455	0.86[EUR][1000 genomes]
rs7958582	0.87[EUR][1000 genomes]
rs7959852	0.84[MEX][hapmap]
rs7964383	0.84[MEX][hapmap]
rs7971943	0.84[MEX][hapmap]
rs824699	0.81[ASN][1000 genomes]
rs824716	0.90[CEU][hapmap];0.94[JPT][hapmap]
rs824724	0.90[CEU][hapmap];0.94[JPT][hapmap]
rs824734	0.90[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap]
rs824738	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs844046	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs865420	0.90[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs917666	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42350600-42354800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:42350600-42355000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:42351200-42355200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:42353600-42355600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:42354200-42357400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:42354400-42354800	Enhancers	Fetal Brain Male	brain
7	chr12:42354400-42355800	Enhancers	Brain Hippocampus Middle	brain
8	chr12:42354400-42356400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:42354400-42356400	Enhancers	Brain Germinal Matrix	brain

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