Variant report

Variant	rs73060649
Chromosome Location	chr7:12597339-12597340
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs6972135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060603	1.00[EUR][1000 genomes]
rs73060604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060633	1.00[EUR][1000 genomes]
rs73060658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062618	1.00[AMR][1000 genomes]
rs73062634	1.00[AMR][1000 genomes]
rs73062637	1.00[AMR][1000 genomes]
rs73062658	1.00[AMR][1000 genomes]
rs73062660	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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv528031	chr7:12536336-12618764	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1025397	chr7:12543161-12612059	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025006	chr7:12543161-12618924	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027831	chr7:12543161-12619740	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv470066	chr7:12543794-12618764	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1033478	chr7:12547121-12618924	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv464379	chr7:12572742-12618764	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv606231	chr7:12572742-12618764	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1018053	chr7:12580554-12632996	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12596200-12597800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:12596600-12598400	Enhancers	Placenta	Placenta
3	chr7:12596800-12597400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:12596800-12597400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:12596800-12597400	Enhancers	HMEC	breast
6	chr7:12596800-12597400	Enhancers	NHEK	skin
7	chr7:12596800-12597600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:12597000-12597400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:12597000-12597400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:12597200-12597400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:12597200-12597800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:12597200-12609800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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