Variant report

Variant	rs57149475
Chromosome Location	chr12:46719474-46719475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10506267	1.00[EUR][1000 genomes]
rs10506268	1.00[EUR][1000 genomes]
rs11183454	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1125908	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11830769	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11834905	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17096884	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2125646	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2307062	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2307063	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408509	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742061	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56222195	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57067899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57271454	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57425661	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60628240	1.00[EUR][1000 genomes]
rs60977966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61232019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61406609	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61517444	1.00[EUR][1000 genomes]
rs73282532	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282561	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73282591	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74083707	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74083710	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74084031	1.00[EUR][1000 genomes]
rs923788	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv521192	chr12:46709251-46720819	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46708800-46736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46718600-46719600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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