Variant report

Variant	rs73003080
Chromosome Location	chr1:152477311-152477312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11204983	1.00[EUR][1000 genomes]
rs12057680	1.00[EUR][1000 genomes]
rs12060296	1.00[EUR][1000 genomes]
rs12066296	1.00[EUR][1000 genomes]
rs12067755	1.00[EUR][1000 genomes]
rs12078392	1.00[EUR][1000 genomes]
rs12083959	1.00[EUR][1000 genomes]
rs13376095	1.00[AMR][1000 genomes]
rs16834174	1.00[EUR][1000 genomes]
rs1858481	1.00[EUR][1000 genomes]
rs28655434	1.00[EUR][1000 genomes]
rs3120654	1.00[EUR][1000 genomes]
rs3126087	1.00[EUR][1000 genomes]
rs3126093	1.00[EUR][1000 genomes]
rs3134871	1.00[EUR][1000 genomes]
rs566973	1.00[EUR][1000 genomes]
rs58935238	1.00[EUR][1000 genomes]
rs60095860	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60179982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60612664	1.00[AMR][1000 genomes]
rs60963018	1.00[EUR][1000 genomes]
rs61230786	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73003029	1.00[AMR][1000 genomes]
rs73003030	1.00[AMR][1000 genomes]
rs73003789	1.00[EUR][1000 genomes]
rs73004841	1.00[EUR][1000 genomes]
rs73004845	1.00[EUR][1000 genomes]
rs73004848	1.00[EUR][1000 genomes]
rs73004856	1.00[EUR][1000 genomes]
rs73004882	1.00[EUR][1000 genomes]
rs73004888	1.00[EUR][1000 genomes]
rs73006958	1.00[EUR][1000 genomes]
rs73006962	1.00[EUR][1000 genomes]
rs733439	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127917	1.00[EUR][1000 genomes]
rs74127918	1.00[EUR][1000 genomes]
rs74128280	1.00[EUR][1000 genomes]
rs74129447	1.00[EUR][1000 genomes]
rs74129458	1.00[EUR][1000 genomes]
rs74129459	1.00[EUR][1000 genomes]
rs74129463	1.00[EUR][1000 genomes]
rs74129464	1.00[EUR][1000 genomes]
rs74129466	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1014393	chr1:152451935-152491693	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1012908	chr1:152464844-152517845	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1005553	chr1:152464844-152519197	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv547859	chr1:152466882-152482587	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013357	chr1:152469744-152519184	Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1798404	chr1:152472839-152587113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:152471400-152478800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:152473200-152480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:152473600-152480200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152473800-152478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:152473800-152480600	Enhancers	HMEC	breast
6	chr1:152475400-152480600	Enhancers	NHEK	skin
7	chr1:152475800-152479600	Enhancers	Fetal Intestine Large	intestine
8	chr1:152476200-152477600	Weak transcription	Placenta	Placenta
9	chr1:152476400-152482400	Weak transcription	A549	lung
10	chr1:152477200-152478000	Enhancers	Esophagus	oesophagus
11	chr1:152477200-152478400	Enhancers	Fetal Intestine Small	intestine

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