Variant report

Variant	rs11179430
Chromosome Location	chr12:73266789-73266790
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11179340	1.00[AMR][1000 genomes]
rs11179348	1.00[AMR][1000 genomes]
rs11179349	1.00[AMR][1000 genomes]
rs11179431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11179433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11179435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311086	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321853	0.84[AFR][1000 genomes]
rs7485939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7488510	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv817280	chr12:72820558-73508605	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv868885	chr12:72998553-73587081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv559367	chr12:73130815-73385096	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1040463	chr12:73139566-73604504	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1048896	chr12:73146058-73378433	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035827	chr12:73151833-73378208	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv541534	chr12:73151833-73378208	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv559368	chr12:73177907-73281466	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv899263	chr12:73214157-73413041	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1038891	chr12:73220866-73281737	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1053848	chr12:73226400-73367875	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1036707	chr12:73231379-73363410	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1052026	chr12:73231379-73367875	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv559369	chr12:73242131-73364564	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73263200-73266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:73265600-73267000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:73265600-73267200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:73265800-73267400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:73265800-73267400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:73265800-73267600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:73266000-73267000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:73266200-73267000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:73266400-73267400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:73266600-73266800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:73266600-73267200	Active TSS	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
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