Variant report

Variant	rs56014476
Chromosome Location	chr12:29265791-29265792
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:26)

rs_ID	r²[population]
rs1498795	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17653960	0.81[EUR][1000 genomes]
rs17704968	0.81[EUR][1000 genomes]
rs1960925	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56019958	0.82[EUR][1000 genomes]
rs56823591	0.81[EUR][1000 genomes]
rs57629099	0.81[EUR][1000 genomes]
rs58373348	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59190473	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60718845	0.81[EUR][1000 genomes]
rs61641706	0.82[EUR][1000 genomes]
rs7295808	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7301103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315447	0.80[EUR][1000 genomes]
rs74076209	0.81[EUR][1000 genomes]
rs74076219	0.81[EUR][1000 genomes]
rs74076226	0.80[EUR][1000 genomes]
rs74076482	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74076486	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74076737	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74076740	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957091	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7966315	0.80[EUR][1000 genomes]
rs7976184	0.96[AMR][1000 genomes]
rs7978880	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv972977	chr12:29259810-29276403	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29265200-29266800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29265200-29267000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:29265200-29267000	Enhancers	HMEC	breast
4	chr12:29265200-29267000	Enhancers	NHEK	skin
5	chr12:29265400-29265800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:29265400-29266200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:29265400-29266400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:29265400-29266800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:29265600-29265800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:29265600-29266200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:29265600-29266200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:29265600-29266200	Enhancers	Brain Anterior Caudate	brain
13	chr12:29265600-29266200	Enhancers	Placenta	Placenta

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