Variant report

Variant	rs1234054
Chromosome Location	chr12:42374047-42374048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1009723	0.92[EUR][1000 genomes]
rs1016659	0.92[EUR][1000 genomes]
rs1024700	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10431604	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10748323	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10785320	0.84[EUR][1000 genomes]
rs1226303	0.90[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1233988	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233992	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233994	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233996	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234032	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1234033	0.85[EUR][1000 genomes]
rs1234034	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1234035	0.85[EUR][1000 genomes]
rs1234037	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1234038	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1234040	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1234052	0.90[EUR][1000 genomes]
rs12826710	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1463613	0.86[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1628871	0.83[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap]
rs1688874	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1732350	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1732351	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1732352	0.86[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1882139	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1994284	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2012636	0.84[EUR][1000 genomes]
rs6582378	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs712106	0.86[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs7136038	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7303028	0.90[CEU][hapmap]
rs7305763	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7957081	0.92[EUR][1000 genomes]
rs7958455	0.94[EUR][1000 genomes]
rs7958582	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7970115	0.87[JPT][hapmap]
rs824699	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs824716	0.86[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs824717	0.81[AMR][1000 genomes]
rs824718	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs824724	0.86[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs824734	0.90[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs824738	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs824741	0.81[JPT][hapmap]
rs844046	0.86[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs865420	0.90[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs917666	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42362400-42376000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:42373200-42375200	Enhancers	Fetal Kidney	kidney
3	chr12:42373200-42375600	Enhancers	HepG2	liver
4	chr12:42373400-42376200	Enhancers	Fetal Stomach	stomach
5	chr12:42373600-42375600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:42374000-42376400	Enhancers	A549	lung

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