Variant report

Variant	rs73291969
Chromosome Location	chr12:46966773-46966774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56669049	1.00[AFR][1000 genomes]
rs56838582	1.00[AFR][1000 genomes]
rs57410946	0.83[AFR][1000 genomes]
rs59321024	1.00[AFR][1000 genomes]
rs73290358	1.00[AFR][1000 genomes]
rs73290374	1.00[AFR][1000 genomes]
rs73290379	1.00[AFR][1000 genomes]
rs73293933	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46961600-46970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46963000-46971200	Weak transcription	Primary B cells from cord blood	blood
3	chr12:46963800-46970800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:46963800-46971000	Weak transcription	Aorta	Aorta
5	chr12:46964000-46979400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:46964800-46969400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:46965000-46967800	Enhancers	HSMMtube	muscle
8	chr12:46965200-46975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:46965200-46977600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:46965800-46966800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:46965800-46972200	Weak transcription	NHDF-Ad	bronchial
12	chr12:46966600-46967000	Enhancers	HepG2	liver
13	chr12:46966600-46967200	Enhancers	HSMM	muscle
14	chr12:46966600-46967600	Enhancers	Osteobl	bone
15	chr12:46966600-46967800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:46966600-46967800	Enhancers	Psoas Muscle	Psoas
17	chr12:46966600-46968000	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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