Variant report

Variant	rs73043705
Chromosome Location	chr3:180164944-180164945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16831570	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57837690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61658120	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61711642	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7635430	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180164000-180165400	Enhancers	HMEC	breast
2	chr3:180164400-180165200	Enhancers	NHEK	skin
3	chr3:180164400-180165800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:180164400-180166200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:180164600-180165000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:180164800-180165800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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