Variant report

Variant	rs11052578
Chromosome Location	chr12:33420475-33420476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10844528	0.96[ASN][1000 genomes]
rs11052539	0.89[ASN][1000 genomes]
rs11052542	0.89[ASN][1000 genomes]
rs11052553	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11052554	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11052556	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11052588	0.96[ASN][1000 genomes]
rs11615155	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12228065	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12813479	0.95[EUR][1000 genomes]
rs12814596	0.95[EUR][1000 genomes]
rs12819954	0.95[EUR][1000 genomes]
rs12820466	0.95[EUR][1000 genomes]
rs12821548	0.95[EUR][1000 genomes]
rs12821754	0.95[EUR][1000 genomes]
rs12827859	0.95[EUR][1000 genomes]
rs12830962	0.81[EUR][1000 genomes]
rs1457671	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34382986	0.90[EUR][1000 genomes]
rs34390674	0.81[EUR][1000 genomes]
rs34461395	0.95[EUR][1000 genomes]
rs34617614	0.95[EUR][1000 genomes]
rs34787755	0.95[EUR][1000 genomes]
rs34975039	0.95[EUR][1000 genomes]
rs35144121	0.81[EUR][1000 genomes]
rs35417019	0.95[EUR][1000 genomes]
rs35472257	0.85[EUR][1000 genomes]
rs35506599	0.95[EUR][1000 genomes]
rs35653702	0.85[EUR][1000 genomes]
rs35714469	0.95[EUR][1000 genomes]
rs35846513	0.81[EUR][1000 genomes]
rs3911503	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4931699	1.00[CHB][hapmap]
rs4931714	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55841103	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs68189829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71457699	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1037459	chr12:33310703-33905662	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv541459	chr12:33310703-33905662	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv832368	chr12:33368962-33588498	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1048521	chr12:33373737-33430095	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv826317	chr12:33380271-33446428	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1035988	chr12:33399053-33699363	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:33418600-33427800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33420200-33420600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:33420200-33421200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:33420400-33420600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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