Variant report

Variant	rs60325164
Chromosome Location	chr12:47010763-47010764
allele	A/G
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:22)

rs_ID	r²[population]
rs11183579	1.00[EUR][1000 genomes]
rs11830086	1.00[AMR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs17096996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2408578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55649919	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs59451063	1.00[AMR][1000 genomes]
rs61351787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7136748	1.00[AMR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes]
rs74082433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][1000 genomes]
rs74084124	1.00[AMR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes]
rs74085442	1.00[AMR][1000 genomes]
rs7975472	1.00[AMR][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	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
2	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
3	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
4	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1814000	chr12:47007493-47033254	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47003000-47012000	Weak transcription	Psoas Muscle	Psoas
2	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47003200-47025600	Weak transcription	NHEK	skin
4	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
5	chr12:47007200-47011600	Weak transcription	Left Ventricle	heart
6	chr12:47008600-47011200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:47009200-47013000	Weak transcription	Liver	Liver
8	chr12:47010200-47010800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:47010200-47011000	Weak transcription	NHLF	lung
10	chr12:47010200-47011200	Enhancers	NHDF-Ad	bronchial
11	chr12:47010400-47010800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:47010400-47011000	Enhancers	Adipose Nuclei	Adipose
13	chr12:47010400-47011200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:47010400-47011400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:47010400-47011400	Enhancers	Osteobl	bone
16	chr12:47010600-47010800	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:47010600-47011000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:47010600-47011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:47010600-47011200	Enhancers	Muscle Satellite Cultured Cells	--

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