Variant report

Variant	rs73780389
Chromosome Location	chr5:114890728-114890729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56323508	1.00[AMR][1000 genomes]
rs60942061	1.00[AMR][1000 genomes]
rs61680130	1.00[AMR][1000 genomes]
rs73780309	1.00[AMR][1000 genomes]
rs73780317	1.00[AMR][1000 genomes]
rs73780604	1.00[AMR][1000 genomes]
rs73782717	1.00[AMR][1000 genomes]
rs73782723	1.00[AMR][1000 genomes]
rs73782724	1.00[AMR][1000 genomes]
rs73782726	1.00[AMR][1000 genomes]
rs768946	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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114881000-114893200	Weak transcription	Right Ventricle	heart
2	chr5:114886600-114893000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:114886800-114892200	Weak transcription	Gastric	stomach
4	chr5:114887400-114893200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:114887600-114890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:114887600-114890800	Weak transcription	NHLF	lung
7	chr5:114887600-114892200	Weak transcription	Pancreas	Pancrea
8	chr5:114887600-114893000	Weak transcription	Stomach Mucosa	stomach
9	chr5:114887600-114893200	Weak transcription	Esophagus	oesophagus
10	chr5:114887600-114893800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:114887800-114893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:114888000-114892800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:114888200-114892800	Weak transcription	Right Atrium	heart
14	chr5:114888600-114892800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:114889000-114893600	Weak transcription	NHDF-Ad	bronchial
16	chr5:114889400-114892600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:114889400-114895600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:114890400-114891400	Enhancers	HUVEC	blood vessel

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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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